Article

Clinical practices and prognosis of Congenital Central Hypoventilation Syndrome : based on 20-year-records in Korea

2024-02-23

Abstract excerpt

<h4>Purpose: </h4> 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...

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Literature Corpus work: e4e5a409-4f26-5559-b536-49396d3df4cb
DOI: 10.21203/rs.3.rs-3974540/v1

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