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Article

PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.

American journal of respiratory and critical care medicine - 15 Oct 2006

Antic Nick A, Malow Beth A, Lange Neale, McEvoy R Doug, Olson Amy L, Turkington Peter, Windisch Wolfram, Samuels Martin, Stevens Cathy A, Berry-Kravis Elizabeth M, Weese-Mayer Debra E

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) typically presents in the newborn period. A case series of five adults is presented, each heterozygous for a documented polyalanine expansion mutation in the PHOX2B gene and evidence of nocturnal alveolar hypoventilation. All cases had symptoms in childhood, but survived to adulthood without ventilatory support. After identification of physiologic compromise,...

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PMID: 16873766
DOI: 10.1164/rccm.200605-607CR

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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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