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Article

Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study.

Respiratory research - 30 Jun 2015

Verkaeren Emilienne, Brion Agnès, Hurbault Amélie, Chenivesse Cécile, Morelot-Panzini Capucine, Gonzalez-Bermejo Jésus, Attali Valérie, Similowski Thomas, Straus Christian

Abstract excerpt

BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disease due to PHOX2B mutations. CCHS patients suffer from many autonomic disorders, dominated clinically by defective ventilatory automatisms. From birth, the life of CCHS patients depends on ventilatory support during sleep, involving a high burden of care. Whether or not this impairs the quality of life of these patients during...

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Identifiers

PMID: 26122307
DOI: 10.1186/s12931-015-0241-3
PMCID: PMC4487972

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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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