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Article

Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene.

Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia - 1 Dec 2016

Klaskova Eva, Drabek Jiri, Hobzova Milada, Smolka Vratislav, Seda Miroslav, Hyjanek Jiri, Slavkovsky Rastislav, Stranska Jana, Prochazka Martin

Abstract excerpt

BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder resulting from mutations in the PHOX2B gene located on chromosome 4p12.3, characterized by hypoventilation secondary to missing responses to both hypercapnia and hypoxia. CASE REPORT: Proband. A girl, hospitalised 5 times for respiratory failure from 6 weeks old, presented at 4 years of age severe cyanosis related to...

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Identifiers

PMID: 27485184
DOI: 10.5507/bp.2016.038

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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