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Article

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

Nature genetics - 1 Apr 2003

Amiel Jeanne, Laudier Béatrice, Attié-Bitach Tania, Trang Ha, de Pontual Loïc, Gener Blanca, Trochet Delphine, Etchevers Heather, Ray Pierre, Simonneau Michel, Vekemans Michel, Munnich Arnold, Gaultier Claude, Lyonnet Stanislas

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a life-threatening disorder involving an impaired ventilatory response to hypercarbia and hypoxemia. This core phenotype is associated with lower-penetrance anomalies of the autonomic nervous system (ANS) including Hirschsprung disease and tumors of neural-crest derivatives such as ganglioneuromas and neuroblastomas. In mice, the...

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PMID: 12640453
DOI: 10.1038/ng1130

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.PMID 12640453Read ↗

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PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.Semantic proximity Read ↗

Congenital central hypoventilation syndrome and the PHOX2B gene mutation.Semantic proximity Read ↗

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Pediatric disorders with autonomic dysfunction: what role for PHOX2B?Semantic proximity Read ↗

Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).Semantic proximity Read ↗

Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome.Semantic proximity Read ↗

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