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Article

A Case of "Abnormally Abnormal" Hypoxic Ventilatory Responses: A Novel NPARM PHOX 2B Gene Mutation.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine - 15 Aug 2017

Unger Stefan A, Guillot Maude, Urquhart Donald S

Abstract excerpt

ABSTRACT: Congenital central hypoventilation syndrome (CCHS) is a rare disorder associated with dysregulation of the autonomic ventilatory response to hypoxia and hypercarbia usually caused by polyalanine repeat expansion mutations in the PHOX 2B gene. Non-polyalanine repeat mutations (NPARM) represent approximately 10% of cases, and usually require continuous ventilation during sleep, although our knowledge of...

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Identifiers

PMID: 28356171
DOI: 10.5664/jcsm.6706
PMCID: PMC5529127

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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