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PHOX2B mutation in a Taiwanese newborn with congenital central hypoventilation syndrome.

Pediatrics and neonatology - 1 Feb 2014

Wang Tzu-Chiang, Su Yi-Ning, Lai Ming-Chi

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) is characterized by defective automatic regulation of breathing, mostly during sleep. The diagnostic criteria of CCHS include persistent sleep hypoventilation without primary cardiac, pulmonary disease or neuromuscular dysfunction, and no arousal response to hypoxemia and hypercapnia. Mutations in the PHOX2B gene have been indentified in 93-100% of patients with...

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PMID: 23597545
DOI: 10.1016/j.pedneo.2012.12.003

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

Source receipt: pubmed, retrieved 6 Sept 2026.

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