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Article

Central hypoventilation with PHOX2B expansion mutation presenting in adulthood.

Thorax - 1 Oct 2007

Barratt S, Kendrick A H, Buchanan F, Whittle A T

Abstract excerpt

Congenital central hypoventilation syndrome most commonly presents in neonates with sleep related hypoventilation; late onset cases have occurred up to the age of 10 years. It is associated with mutations in the PHOX2B gene, encoding a transcription factor involved in autonomic nervous system development. The case history is described of an adult who presented with chronic respiratory failure due to PHOX2B...

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Identifiers

PMID: 17909190
DOI: 10.1136/thx.2006.068908
PMCID: PMC2094255

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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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