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Article

Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine - 15 Nov 2020

Hino Aoi, Terada Jiro, Kasai Hajime, Shojima Hikaru, Ohgino Keiko, Sasaki Ayako, Hayasaka Kiyoshi, Tatsumi Koichiro

Abstract excerpt

STUDY OBJECTIVES: Congenital central hypoventilation syndrome (CCHS) is caused by the paired-like homeobox 2B (PHOX2B) mutation and predominantly diagnosed during the neonatal period. Although late-onset CCHS and PHOX2B mutation carriers have been reported, the features of these disease states in adults remain uncertain. This study aimed to identify the characteristics of adult-onset CCHS and PHOX2B-mutation...

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Identifiers

PMID: 32741443
DOI: 10.5664/jcsm.8732
PMCID: PMC8034226

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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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