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Article

Congenital central hypoventilation syndrome.

Respiratory physiology & neurobiology - 1 Nov 2013

Ramanantsoa N, Gallego J

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) is characterized by hypoventilation during sleep and impaired ventilatory responses to hypercapnia and hypoxemia. Most cases are sporadic and caused by de novo PHOX2B gene mutations, which are usually polyalanine repeat expansions. Physiological and neuroanatomical studies of genetically engineered mice and analyses of cellular responses to mutated Phox2b have...

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Identifiers

PMID: 23692929
DOI: 10.1016/j.resp.2013.05.018

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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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