A case of congenital central hypoventilation syndrome in a three‐generation family with non‐polyalanine repeat PHOX2B mutation. Issue 10 (5th May 2014)

• Record Type: Journal Article
• Authors: Low, K.J.; Turnbull, A.R.; Smith, K.R.; Hilliard, T.N.; Hole, L.J.; Meecham Jones, D.J.; Williams, M.M.; Donaldson, A.
• Is Part Of: Pediatric pulmonology. Volume 49:Issue 10(2014:Oct.)
• Page Start: E140
• Page End: E143
• Publication Date: 2014-05-05
• Subjects: Pediatric respiratory diseases -- Periodicals; Pediatrics -- Periodicals; 618.922
• DOI: 10.1002/ppul.23051
• Languages: English
• ISSNs: 8755-6863

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ppul23051-sec-0001" sec-type="section"> <p>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. <bold>Pediatr Pulmonol. 2014; 49:E140–E143.</bold> © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>