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Article

A case of congenital central hypoventilation syndrome in a three-generation family with non-polyalanine repeat PHOX2B mutation.

Pediatric pulmonology - 1 Oct 2014

Low K J, Turnbull A R, Smith K R, Hilliard T N, Hole L J, Meecham Jones D J, Williams M M, Donaldson A

Abstract excerpt

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. Pediatr Pulmonol. 2014;...

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Identifiers

PMID: 24799442
DOI: 10.1002/ppul.23051

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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