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Article

Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.

Pediatrics - 1 Aug 2006

Todd Emily S, Scott Nicole M, Weese-Mayer Debra E, Weinberg Seth M, Berry-Kravis Elizabeth M, Silvestri Jean M, Kenny Anna S, Hauptman Susan A, Zhou Lili, Marazita Mary L

Abstract excerpt

OBJECTIVE: Individuals with congenital central hypoventilation syndrome have characteristic variants in the PHOX2B gene (primarily polyalanine expansion mutations). The PHOX2B gene acts as a transcriptional activator in the promotion of pan-neuronal differentiation in the autonomic nervous system during early embryologic development, with a primary role in the sympathetic noradrenergic phenotype in vertebrates....

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Identifiers

PMID: 16882781
DOI: 10.1542/peds.2005-3134

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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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Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.PMID 16882781Read ↗

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

Causative and common PHOX2B variants define a broad phenotypic spectrumSemantic proximity Read ↗

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.Semantic proximity Read ↗

PHOX2B: a diagnostic cornerstone in neurocristopathies and neuroblastomas.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 ↗

The genetics of congenital central hypoventilation syndrome: clinical implicationsSemantic proximity Read ↗

Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).Semantic proximity Read ↗

Congenital central hypoventilation syndrome and the PHOX2B gene mutation.Semantic proximity Read ↗

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.Semantic proximity Read ↗

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