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Article

A case of congenital central hypoventilation syndrome with PHOX2B gene mutation in a Korean neonate.

Journal of Korean medical science - 1 Aug 2010

Kwon Kyoung-Ah, Park Su-Eun, Byun Shin-Yun, Kim Shine-Young, Hwang Sang-Hyoun

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder with apnea and cyanosis during sleep requiring immediate endotracheal intubation during the first day of life. The PHOX2B gene has been identified as the major gene involved in CCHS. This is the first report of a Korean neonate with CCHS confirmed to have a PHOX2B mutation with expanded alleles containing 20 polyalanine repeats that...

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Identifiers

PMID: 20676341
DOI: 10.3346/jkms.2010.25.8.1237
PMCID: PMC2908799

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

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