Podcast
Questions and Answers
In a female child with dermoid cyst, if the defect is found in the midline on MRI, which gene mutation is most likely responsible for the condition?
In a female child with dermoid cyst, if the defect is found in the midline on MRI, which gene mutation is most likely responsible for the condition?
What is the most common genetic defect associated with Legius syndrome?
What is the most common genetic defect associated with Legius syndrome?
In a child with multiple yellowish papules in the neck and axilla, as well as angoid streaks, what genetic defect is most likely causing these symptoms?
In a child with multiple yellowish papules in the neck and axilla, as well as angoid streaks, what genetic defect is most likely causing these symptoms?
In a family where the father and 2 sons have colon cancer, and another son is normal, what is the likelihood of the normal son inheriting the cancer?
In a family where the father and 2 sons have colon cancer, and another son is normal, what is the likelihood of the normal son inheriting the cancer?
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In a picture showing AR inheritance with lentigines, which syndrome is most likely associated with this genetic pattern?
In a picture showing AR inheritance with lentigines, which syndrome is most likely associated with this genetic pattern?
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In a picture showing striated nails, what is the most likely mode of inheritance for this condition?
In a picture showing striated nails, what is the most likely mode of inheritance for this condition?
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What is the most likely mode of inheritance for Ichthyosis with low estradiol?
What is the most likely mode of inheritance for Ichthyosis with low estradiol?
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In the context of Pigmentation in all body but not in mucous membrane, which syndrome is characterized by this presentation?
In the context of Pigmentation in all body but not in mucous membrane, which syndrome is characterized by this presentation?
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In Grover’s disease, what type of lesion is commonly observed?
In Grover’s disease, what type of lesion is commonly observed?
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What type of cataract is more specific in atopic dermatitis?
What type of cataract is more specific in atopic dermatitis?
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In a case of Hailey-Hailey disease, what is the characteristic histopathology?
In a case of Hailey-Hailey disease, what is the characteristic histopathology?
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In the context of multiple basal cell carcinoma with milia, which syndrome would be most likely associated with this presentation?
In the context of multiple basal cell carcinoma with milia, which syndrome would be most likely associated with this presentation?
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A patient presents with focal PPK, mucous patches on the mouth and tongue. What is the most likely mode of inheritance for this condition?
A patient presents with focal PPK, mucous patches on the mouth and tongue. What is the most likely mode of inheritance for this condition?
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What type of keratin is typically associated with PPK (palmoplantar keratoderma)?
What type of keratin is typically associated with PPK (palmoplantar keratoderma)?
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In a female child with dermoid cyst, if the defect is found in the lateral eyebrow on MRI, which gene mutation is most likely responsible for the condition?
In a female child with dermoid cyst, if the defect is found in the lateral eyebrow on MRI, which gene mutation is most likely responsible for the condition?
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In a female child with dermoid cyst, if the defect is found in the midline on MRI, which gene mutation is most likely responsible for the condition?
In a female child with dermoid cyst, if the defect is found in the midline on MRI, which gene mutation is most likely responsible for the condition?
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What is the most likely cause of a defect in a female child with a picture that looks old?
What is the most likely cause of a defect in a female child with a picture that looks old?
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In the context of a small lesion in a child's head as aplasia cutis, what is the most likely cause of this defect?
In the context of a small lesion in a child's head as aplasia cutis, what is the most likely cause of this defect?
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In a patient with focal PPK and mucous patches on the mouth and tongue, what is the most likely mode of inheritance for this condition?
In a patient with focal PPK and mucous patches on the mouth and tongue, what is the most likely mode of inheritance for this condition?
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In the context of cancer colon in a father and 2 sons, what is the likelihood of the normal son inheriting the cancer?
In the context of cancer colon in a father and 2 sons, what is the likelihood of the normal son inheriting the cancer?
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In a picture showing AR inheritance with lentigines, which syndrome is most likely associated with this genetic pattern?
In a picture showing AR inheritance with lentigines, which syndrome is most likely associated with this genetic pattern?
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What genetic defect is most likely causing multiple yellowish papules in the neck and axilla, as well as angoid streaks in a child?
What genetic defect is most likely causing multiple yellowish papules in the neck and axilla, as well as angoid streaks in a child?
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What type of cataract is more specific in atopic dermatitis?
What type of cataract is more specific in atopic dermatitis?
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In the context of scaly erythematous skin lesions and hair defects entering proximally, what gene defect is most likely responsible for this condition?
In the context of scaly erythematous skin lesions and hair defects entering proximally, what gene defect is most likely responsible for this condition?
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If there is a lesion in a child's head as small as aplasia cutis, what is the most likely cause of this defect?
If there is a lesion in a child's head as small as aplasia cutis, what is the most likely cause of this defect?
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In a picture showing striated nails, what is the most likely mode of inheritance for this condition?
In a picture showing striated nails, what is the most likely mode of inheritance for this condition?
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In the context of a child with Ichthyosis since birth and mental retardation, which syndrome is most likely the cause?
In the context of a child with Ichthyosis since birth and mental retardation, which syndrome is most likely the cause?
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In a female child with dark pigmentation on the lip, and a family history of colon cancer, what percentage of transmission is there to her siblings?
In a female child with dark pigmentation on the lip, and a family history of colon cancer, what percentage of transmission is there to her siblings?
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In a female child with uterine bleeding and a lesion positive for desmin and smooth muscle, which gene defect is most likely causing this presentation?
In a female child with uterine bleeding and a lesion positive for desmin and smooth muscle, which gene defect is most likely causing this presentation?
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A male patient, 44 years old, presents with dark red itchy lesions on his arms and buttocks. What is the likely cause?
A male patient, 44 years old, presents with dark red itchy lesions on his arms and buttocks. What is the likely cause?
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In a picture showing a small girl with a yellow nodule on her scalp, what is another likely site for this lesion?
In a picture showing a small girl with a yellow nodule on her scalp, what is another likely site for this lesion?
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In a female child with dermoid cyst, if the defect is found in the lateral eyebrow on MRI, which gene mutation is most likely responsible for the condition?
In a female child with dermoid cyst, if the defect is found in the lateral eyebrow on MRI, which gene mutation is most likely responsible for the condition?
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In a patient with multiple yellowish papules in the neck and axilla, as well as angoid streaks, what genetic defect is most likely causing these symptoms?
In a patient with multiple yellowish papules in the neck and axilla, as well as angoid streaks, what genetic defect is most likely causing these symptoms?
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A female child with multiple yellowish papules in the neck and axilla, as well as angoid streaks, also has food allergies. What is the most likely diagnosis?
A female child with multiple yellowish papules in the neck and axilla, as well as angoid streaks, also has food allergies. What is the most likely diagnosis?
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In a male patient with hypotrichosis, atopy, and scaly skin, what are the chances that the NEXT sibling will be affected?
In a male patient with hypotrichosis, atopy, and scaly skin, what are the chances that the NEXT sibling will be affected?
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In a female child with bifid upper 3 ribs and hemivertebra in the upper 3, what is the gene defect most likely responsible for this presentation?
In a female child with bifid upper 3 ribs and hemivertebra in the upper 3, what is the gene defect most likely responsible for this presentation?
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A female child with PPK (palmoplantar keratoderma) and mucous patches on the mouth and tongue most likely has what mode of inheritance for this condition?
A female child with PPK (palmoplantar keratoderma) and mucous patches on the mouth and tongue most likely has what mode of inheritance for this condition?
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In a male patient with dark pigmentation on his lip and a family history of colon cancer, what percentage of his brothers could potentially have the same lesion?
In a male patient with dark pigmentation on his lip and a family history of colon cancer, what percentage of his brothers could potentially have the same lesion?
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What is the most likely gene defect responsible for the small lesion in a child's head known as aplasia cutis?
What is the most likely gene defect responsible for the small lesion in a child's head known as aplasia cutis?
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In a female child with a picture that looks old, which gene mutation is most likely responsible for the condition?
In a female child with a picture that looks old, which gene mutation is most likely responsible for the condition?
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In the context of Pigmentation in all body but not in mucous membrane, which syndrome is characterized by this presentation?
In the context of Pigmentation in all body but not in mucous membrane, which syndrome is characterized by this presentation?
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What is the mode of inheritance for Darrier disease, which is characterized by striated nails?
What is the mode of inheritance for Darrier disease, which is characterized by striated nails?
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What is the likelihood of transmission of colon cancer to offspring if a father and 2 sons have the condition?
What is the likelihood of transmission of colon cancer to offspring if a father and 2 sons have the condition?
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Which gene mutation is most likely responsible for multiple yellowish papules in the neck and axilla, as well as angoid streaks in a child?
Which gene mutation is most likely responsible for multiple yellowish papules in the neck and axilla, as well as angoid streaks in a child?
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Which genetic defect is most likely associated with Legius syndrome?
Which genetic defect is most likely associated with Legius syndrome?
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In a female child with uterine bleeding and a lesion positive for desmin and smooth muscle, which gene defect is most likely causing this presentation?
In a female child with uterine bleeding and a lesion positive for desmin and smooth muscle, which gene defect is most likely causing this presentation?
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A female child with PPK (palmoplantar keratoderma) and mucous patches on the mouth and tongue most likely has what mode of inheritance for this condition?
A female child with PPK (palmoplantar keratoderma) and mucous patches on the mouth and tongue most likely has what mode of inheritance for this condition?
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What type of cataract is more specific in atopic dermatitis?
What type of cataract is more specific in atopic dermatitis?
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What genetic defect is most likely responsible for scaly erythematous skin lesions and hair defects entering proximally?
What genetic defect is most likely responsible for scaly erythematous skin lesions and hair defects entering proximally?
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What is the most likely mode of inheritance for MEDNIK syndrome?
What is the most likely mode of inheritance for MEDNIK syndrome?
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What is the likely cause of a lesion on the nose presenting as SCC or keratoacanthoma, along with a mismatch repair gene?
What is the likely cause of a lesion on the nose presenting as SCC or keratoacanthoma, along with a mismatch repair gene?
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In a child with atopy, developmental retardation, and ichthyosis, which syndrome is most likely the cause?
In a child with atopy, developmental retardation, and ichthyosis, which syndrome is most likely the cause?
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What is the likely mode of inheritance for Gorlin syndrome associated with cafe au lait macules and lesions on the scapula?
What is the likely mode of inheritance for Gorlin syndrome associated with cafe au lait macules and lesions on the scapula?
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What gene defect is most likely responsible for desmin- and smooth muscle-positive lesions associated with uterine bleeding in a female child?
What gene defect is most likely responsible for desmin- and smooth muscle-positive lesions associated with uterine bleeding in a female child?
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In a female child with bifid upper 3 ribs and hemivertebra in the upper 3, what is the most likely gene defect?
In a female child with bifid upper 3 ribs and hemivertebra in the upper 3, what is the most likely gene defect?
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A patient presents with focal PPK, mucous patches on the mouth and tongue. What is the most likely mode of inheritance for this condition?
A patient presents with focal PPK, mucous patches on the mouth and tongue. What is the most likely mode of inheritance for this condition?
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What is the most likely mode of inheritance for ichthyosis with low estradiol?
What is the most likely mode of inheritance for ichthyosis with low estradiol?
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What type of cataract is more specific in atopic dermatitis?
What type of cataract is more specific in atopic dermatitis?
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In a female child with a dermoid cyst, if the defect is found in the midline on MRI, which gene mutation is most likely responsible for the condition?
In a female child with a dermoid cyst, if the defect is found in the midline on MRI, which gene mutation is most likely responsible for the condition?
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In a female child with a dermoid cyst, if the defect is found in the lateral eyebrow on MRI, which gene mutation is most likely responsible for the condition?
In a female child with a dermoid cyst, if the defect is found in the lateral eyebrow on MRI, which gene mutation is most likely responsible for the condition?
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In a picture of an old-featured girl, which gene mutation is most likely responsible for the appearance?
In a picture of an old-featured girl, which gene mutation is most likely responsible for the appearance?
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What genetic defect is most likely associated with Legius syndrome?
What genetic defect is most likely associated with Legius syndrome?
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In a child with multiple yellowish papules in the neck and axilla, as well as angoid streaks, what genetic defect is most likely causing these symptoms?
In a child with multiple yellowish papules in the neck and axilla, as well as angoid streaks, what genetic defect is most likely causing these symptoms?
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In a family where the father and 2 sons have colon cancer, and another son is normal, what is the likelihood of the normal son inheriting the cancer?
In a family where the father and 2 sons have colon cancer, and another son is normal, what is the likelihood of the normal son inheriting the cancer?
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In a picture showing lentigines with AR inheritance, which syndrome is most likely associated with this genetic pattern?
In a picture showing lentigines with AR inheritance, which syndrome is most likely associated with this genetic pattern?
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In a picture showing striated nails, which mode of inheritance is most likely associated with this condition?
In a picture showing striated nails, which mode of inheritance is most likely associated with this condition?
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In a child with a small lesion on the head known as aplasia cutis, what is the most likely cause of this defect?
In a child with a small lesion on the head known as aplasia cutis, what is the most likely cause of this defect?
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What is the mode of inheritance for Darrier disease, which is characterized by striated nails?
What is the mode of inheritance for Darrier disease, which is characterized by striated nails?
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In the context of scaly erythematous skin lesions and hair defects entering proximally, what gene defect is most likely responsible for this condition?
In the context of scaly erythematous skin lesions and hair defects entering proximally, what gene defect is most likely responsible for this condition?
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Which syndrome is characterized by ichthyosis, low estradiol, and mental retardation?
Which syndrome is characterized by ichthyosis, low estradiol, and mental retardation?
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In the context of a picture showing a small girl with a yellow nodule on her scalp, what is another likely site for this lesion?
In the context of a picture showing a small girl with a yellow nodule on her scalp, what is another likely site for this lesion?
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What is the most likely mode of inheritance for PPK (palmoplantar keratoderma) and mucous patches on the mouth and tongue?
What is the most likely mode of inheritance for PPK (palmoplantar keratoderma) and mucous patches on the mouth and tongue?
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In the context of scaly erythematous skin lesions and hair defects entering proximally, what gene defect is most likely responsible for this condition?
In the context of scaly erythematous skin lesions and hair defects entering proximally, what gene defect is most likely responsible for this condition?
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In Grover’s disease, what type of lesion is commonly observed?
In Grover’s disease, what type of lesion is commonly observed?
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What is the likely cause of a lesion on the nose presenting as SCC or keratoacanthoma, along with a mismatch repair gene?
What is the likely cause of a lesion on the nose presenting as SCC or keratoacanthoma, along with a mismatch repair gene?
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In a female child with uterine bleeding and a lesion positive for desmin and smooth muscle, which gene defect is most likely causing this presentation?
In a female child with uterine bleeding and a lesion positive for desmin and smooth muscle, which gene defect is most likely causing this presentation?
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Which gene mutation is most likely responsible for the appearance of an old-featured girl in the picture?
Which gene mutation is most likely responsible for the appearance of an old-featured girl in the picture?
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If a lesion is small and present in the child's head as aplasia cutis, what is the likely cause of this defect?
If a lesion is small and present in the child's head as aplasia cutis, what is the likely cause of this defect?
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In the context of a female child with dark pigmentation on the lip and a family history of colon cancer, what percentage of transmission is there to her siblings?
In the context of a female child with dark pigmentation on the lip and a family history of colon cancer, what percentage of transmission is there to her siblings?
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In a picture of AR inheritance with lentigines, which syndrome is most likely associated with this genetic pattern?
In a picture of AR inheritance with lentigines, which syndrome is most likely associated with this genetic pattern?
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Which mode of inheritance is associated with Darrier disease, characterized by striated nails?
Which mode of inheritance is associated with Darrier disease, characterized by striated nails?
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In the context of pigmentation in all body but not in mucous membrane, which syndrome is characterized by this presentation?
In the context of pigmentation in all body but not in mucous membrane, which syndrome is characterized by this presentation?
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What gene defect is most likely responsible for desmin- and smooth muscle-positive lesions associated with uterine bleeding in a female child?
What gene defect is most likely responsible for desmin- and smooth muscle-positive lesions associated with uterine bleeding in a female child?
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A patient presents with focal PPK, mucous patches on the mouth and tongue. What is the most likely mode of inheritance for this condition?
A patient presents with focal PPK, mucous patches on the mouth and tongue. What is the most likely mode of inheritance for this condition?
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In a male patient with dark pigmentation on his lip and a family history of colon cancer, what percentage of his brothers could potentially have the same lesion?
In a male patient with dark pigmentation on his lip and a family history of colon cancer, what percentage of his brothers could potentially have the same lesion?
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In the context of ichthyosis since birth and mental retardation, which syndrome is most likely the cause?
In the context of ichthyosis since birth and mental retardation, which syndrome is most likely the cause?
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What gene defect is most likely responsible for multiple basal cell carcinomas with milia?
What gene defect is most likely responsible for multiple basal cell carcinomas with milia?
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In a female child with uterine bleeding and a lesion positive for desmin and smooth muscle, which gene defect is most likely causing this presentation?
In a female child with uterine bleeding and a lesion positive for desmin and smooth muscle, which gene defect is most likely causing this presentation?
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A child presents with atopy, developmental retardation, and ichthyosis. What syndrome is the most likely cause of these symptoms?
A child presents with atopy, developmental retardation, and ichthyosis. What syndrome is the most likely cause of these symptoms?
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A patient presents with café au lait macules and lesions on the scapula. What is the most likely associated anomaly in this case?
A patient presents with café au lait macules and lesions on the scapula. What is the most likely associated anomaly in this case?
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In a patient with small yellow nodules on the scalp, what is another likely site for this lesion?
In a patient with small yellow nodules on the scalp, what is another likely site for this lesion?
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A girl has dark pigmentation on her lip, and her father and two sisters have a history of colon cancer. What percentage of transmission to her siblings is likely?
A girl has dark pigmentation on her lip, and her father and two sisters have a history of colon cancer. What percentage of transmission to her siblings is likely?
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What type of cataract is more specific in atopic dermatitis?
What type of cataract is more specific in atopic dermatitis?
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A male patient, 44 years old, has dark red itchy lesions on his arms and buttocks. What is the likely cause of these lesions?
A male patient, 44 years old, has dark red itchy lesions on his arms and buttocks. What is the likely cause of these lesions?
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In a female child with uterine bleeding, what gene defect is most likely causing this presentation?
In a female child with uterine bleeding, what gene defect is most likely causing this presentation?
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What gene mutation is most likely responsible for multiple yellowish papules in the neck and axilla, as well as angoid streaks in a child?
What gene mutation is most likely responsible for multiple yellowish papules in the neck and axilla, as well as angoid streaks in a child?
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A child with hypotrichosis, atopy, and scaly skin has normal parents. What are the chances that the NEXT sibling will be affected?
A child with hypotrichosis, atopy, and scaly skin has normal parents. What are the chances that the NEXT sibling will be affected?
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In a female child with bifid upper 3 rib and hemivertebra in upper 3, what is the gene defect most likely responsible for this condition?
In a female child with bifid upper 3 rib and hemivertebra in upper 3, what is the gene defect most likely responsible for this condition?
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In a picture of nails hyperkeratotic with a history of father and daughter, what treatment is most appropriate?
In a picture of nails hyperkeratotic with a history of father and daughter, what treatment is most appropriate?
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In a patient with axillary erosion and bad smell, what histopathology finding is most likely present if it's not Grover’s disease?
In a patient with axillary erosion and bad smell, what histopathology finding is most likely present if it's not Grover’s disease?
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