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Article

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).

Human mutation - 1 May 2008

Trochet Delphine, de Pontual Loïc, Estêvao Maria Helena, Mathieu Yves, Munnich Arnold, Feingold J, Goridis Christo, Lyonnet Stanislas, Amiel Jeanne

Abstract excerpt

Homozygosity for a dominant allele is relatively rare and preferentially observed in communities with high inbreeding. According to the definition of true dominance, similar phenotypes should be observed in patients heterozygous and homozygous for a dominant mutation. However, the homozygous phen...

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PMID: 18407552
DOI: 10.1002/humu.20727

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18407552-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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