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Article

Genetics and early disturbances of breathing control.

Pediatric research - 1 May 2004

Gaultier Claude, Amiel Jeanne, Dauger Stéphane, Trang Ha, Lyonnet Stanislas, Gallego Jorge, Simonneau Michel

Abstract excerpt

Early disturbances in breathing control, including apneas of prematurity and apparently life-threatening events, account for some cases of sudden infant death syndrome and for a rare disorder called congenital central hypoventilation syndrome (CCHS). Data suggesting a genetic basis for CCHS have been obtained. Recently, we found heterozygous de novo mutations of the PHOX2B gene in 18 of 29 individuals with CCHS....

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Identifiers

PMID: 14739359
DOI: 10.1203/01.PDR.0000115677.78759.C5

Genes

BDNF
RET

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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