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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