Congenital Central Hypoventilation Syndrome withPHOX2BGene Mutation: Are We Missing the Diagnosis?
✍ Scribed by Nilay Nirupam, Rajni Sharma, Viswas Chhapola…
- Book ID
- 120902558
- Publisher
- Springer-Verlag
- Year
- 2012
- Tongue
- English
- Weight
- 71 KB
- Volume
- 80
- Category
- Article
- ISSN
- 0019-5456
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Congenital central hypoventilation syndrome (CCHS) usually occurs as an isolated phenotype. However, 16% of the index cases are also affected with Hirschsprung disease (HSCR). Complex segregation analysis suggests that CCHS is familial and has the same inheritance pattern with or without HSCR. We po
Homozygosity for a dominant allele is relatively rare and preferentially observed in communities with high inbreeding. According to the definition of true dominance, similar phenotypes should be observed in patients heterozygous and homozygous for a dominant mutation. However, the homozygous phenoty