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Article

Severe Positional Central Sleep Apnea in an Asymptomatic Adult With a PHOX2B Frameshift Mutation.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine - 15 Aug 2018

Janssen Hennie C J P, Vulto-van Silfhout Anneke T, Jongmans Marjolijn C J, van der Hout Annemieke H, Overeem Sebastiaan

Abstract excerpt

ABSTRACT: We report an unusual case of an adult patient carrying a germline PHOX2B frameshift mutation and hence was diagnosed with congenital central hypoventilation syndrome. He came to medical attention after the mutation was identified in his daughter who presented with hypoventilation and a neuroblastoma. Although PHOX2B mutations are usually associated with a phenotype of congenital hypoventilation, severe...

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Identifiers

PMID: 30092902
DOI: 10.5664/jcsm.7290
PMCID: PMC6086954

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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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