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Article

PHOX2B mutations and ventilatory control.

Respiratory physiology & neurobiology - 10 Dec 2008

Gallego Jorge, Dauger Stéphane

Abstract excerpt

The transcription factor PHOX2B is essential for the development of the autonomic nervous system. In humans, polyalanine expansion mutations in PHOX2B cause Congenital Central Hypoventilation Syndrome (CCHS), a rare life-threatening disorder characterized by hypoventilation during sleep and impaired chemosensitivity. CCHS is combined with comparatively less severe impairments of autonomic functions including...

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Identifiers

PMID: 18675942
DOI: 10.1016/j.resp.2008.07.003

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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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