Podcast
Questions and Answers
Which of the following is the major cause of most cases of achondroplasia?
Which of the following is the major cause of most cases of achondroplasia?
What is the frequency of achondroplasia in live births?
What is the frequency of achondroplasia in live births?
Which specific mutations in the FGFR3 gene are responsible for achondroplasia?
Which specific mutations in the FGFR3 gene are responsible for achondroplasia?
When do new mutations in the FGFR3 gene occur for achondroplasia?
When do new mutations in the FGFR3 gene occur for achondroplasia?
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What is germline mosaicism?
What is germline mosaicism?
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How is germline mosaicism suspected?
How is germline mosaicism suspected?
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What is the definition of penetrance?
What is the definition of penetrance?
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In which type of diseases does penetrance mostly refer to?
In which type of diseases does penetrance mostly refer to?
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What is reduced penetrance?
What is reduced penetrance?
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Can penetrance be variable?
Can penetrance be variable?
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Which of the following accurately describes reduced penetrance?
Which of the following accurately describes reduced penetrance?
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What is the difference between reduced penetrance and variable expressivity?
What is the difference between reduced penetrance and variable expressivity?
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Which disease has complete penetrance but variable expressivity?
Which disease has complete penetrance but variable expressivity?
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What is the diagnostic criteria for NF1?
What is the diagnostic criteria for NF1?
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What is pleiotropy?
What is pleiotropy?
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What is the difference between locus and allelic heterogeneity?
What is the difference between locus and allelic heterogeneity?
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Which disease is an example of allelic heterogeneity?
Which disease is an example of allelic heterogeneity?
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What is the frequency of neurofibromatosis type 1 (NF1) in births?
What is the frequency of neurofibromatosis type 1 (NF1) in births?
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What is the genetic inheritance pattern of neurofibromatosis type 1 (NF1)?
What is the genetic inheritance pattern of neurofibromatosis type 1 (NF1)?
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