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Article

Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center.

European journal of pediatrics - 1 Aug 2024

Lee Min Jeong, Park Ji Soo, Kim Kyunghoon, Ko Jung Min, Park June Dong, Suh Dong In

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder characterized by hypoventilation due to impaired breathing control by the central nervous system and other symptoms of autonomic dysfunction. Mutations in paired-like homeobox 2 B (PHOX2B) are responsible for most cases of CCHS. Patients with CCHS have various phenotypes and severities, making the diagnosis difficult. This study aimed...

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Identifiers

PMID: 38780650
DOI: 10.1007/s00431-024-05611-6
PMCID: PMC11263406

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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