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Article

Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation.

Clinical genetics - 1 Sept 2010

Parodi S, Vollono C, Baglietto M P, Balestri M, Di Duca M, Landri P A, Ceccherini I, Ottonello G, Cilio M R

Abstract excerpt

Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder. Although most CCHS associated PHOX2B mutations occur de novo, about 10% of the cases are inherited from apparently asymptomatic parents, thus confirming variable expressivity and incomplete penetrance of PHOX2B mutations. Three asymptomatic parents of children affected with CCHS, and found to carry the same PHOX2B expansion mutations...

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Identifiers

PMID: 20236122
DOI: 10.1111/j.1399-0004.2010.01383.x

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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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