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Article

Mutational analysis of the RNX gene in congenital central hypoventilation syndrome.

American journal of medical genetics - 22 Nov 2002

Matera Ivana, Bachetti Tiziana, Cinti Roberta, Lerone Margherita, Gagliardi Luigi, Morandi Francesco, Motta Mario, Mosca Fabio, Ottonello Giancarlo, Piumelli Raffaele, Schober Johannes G, Ravazzolo Roberto, Ceccherini Isabella

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) is a rare syndrome characterized by failure of autonomic respiratory control, often presenting with other dysfunctions of the autonomic nervous system. Segregation analysis suggested a complex model of inheritance with a major locus involved. Dis...

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Identifiers

PMID: 12407709
DOI: 10.1002/ajmg.10746

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12407709-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Mutational analysis of the RNX gene in congenital central hypoventilation syndrome.PMID 12407709Read ↗

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In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.Semantic proximity Read ↗

Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.Semantic proximity Read ↗

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