Abstract
We describe a three generation family in whom multiple individuals are variably affected due to a PHOX2B non-polyalanine repeat mutation. This family demonstrates extreme phenotypic variability and autosomal dominant transmission over three generations not previously reported in the wider literature. Novel findings also inclue a history of recurrent second trimester miscarriage.
Original language | English |
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Pages (from-to) | E140-E143 |
Journal | Pediatric Pulmonology |
Volume | 49 |
Issue number | 10 |
DOIs | |
Publication status | Published - Oct 2014 |
Bibliographical note
Publisher Copyright:© 2014 Wiley Periodicals, Inc.
Keywords
- CCHS (Congenital Central Hypoventilation Syndrome)
- Hirschsprung's disease
- Neuroblastoma
- PHOX2B