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Article

Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion.

Journal of human genetics - 1 Jan 2010

Arai Hiroko, Otagiri Tesshu, Sasaki Ayako, Umetsu Kazuo, Hayasaka Kiyoshi

Abstract excerpt

With congenital central hypoventilation syndrome (CCHS), most patients have a de novo 5-13 polyalanine expansion mutation in PHOX2B. We reported previously that de novo polyalanine expansion mutations were of paternal origin and were derived from unequal sister chromatid exchange during spermatogenesis in six and four informative families, respectively. In this study, we analyzed the relationship between...

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Identifiers

PMID: 19881470
DOI: 10.1038/jhg.2009.109

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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