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Article

Variable human phenotype associated with novel deletions of the PHOX2B gene.

Pediatric pulmonology - 1 Feb 2012

Jennings Lawrence J, Yu Min, Rand Casey M, Kravis Nicole, Berry-Kravis Elizabeth M, Patwari Pallavi P, Weese-Mayer Debra E

Abstract excerpt

BACKGROUND: Clinical testing for PHOX2B mutations is widely used for patients with any symptoms suggestive of hypoventilation (with/without anatomic/physiologic autonomic dysregulation), though not necessarily with the congenital central hypoventilation syndrome (CCHS) phenotype. Consequently, a multitude of referrals for clinical PHOX2B testing (fragment analysis of the 20 polyalanine repeat region and/or...

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Identifiers

PMID: 21830319
DOI: 10.1002/ppul.21527

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Variable human phenotype associated with novel deletions of the PHOX2B gene.PMID 21830319Read ↗

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

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

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

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

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

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