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Article

PHOX2B gene mutation in a patient with late-onset central hypoventilation.

Pediatric pulmonology - 1 Oct 2004

Trang Ha, Laudier Béatrice, Trochet Delphine, Munnich Arnold, Lyonnet Stanislas, Gaultier Claude, Amiel Jeanne

Abstract excerpt

Congenital central hypoventilation syndrome, which is related to abnormal autonomic control of breathing and typically manifests at birth, was recently associated with PHOX2B gene mutations. In contrast, central hypoventilation with later onset constitutes a poorly defined group of unknown etiology. Here, we report on the identification of a de novo heterozygous PHOX2B mutation in a patient with central...

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PMID: 15334515
DOI: 10.1002/ppul.20074

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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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