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Article

Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse).

American journal of medical genetics. Part A - 15 Feb 2003

Amiel Jeanne, Pelet Anna, Trang Ha, de Pontual Loïc, Simonneau Michel, Munnich Arnold, Gaultier Claude, Lyonnet Stanislas

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) is a rare condition for which segregation analyses have suggested genetic factors. The respiratory phenotype of Rnx knock-out mice together with the Rnx expression at the brainstem level prompted us to consider the RNX gene as a candidate for CCH...

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Identifiers

PMID: 12548735
DOI: 10.1002/ajmg.a.10934

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12548735-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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