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Article

PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.

European journal of pediatrics - 1 Oct 2011

Kwon Min-Jung, Lee Gi-Hyuck, Lee Myoung-Keun, Kim Ji-Youn, Yoo Hye Soo, Ki Chang-Seok, Chang Yun Sil, Kim Jong-Won, Park Won Soon

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS), also known as Ondine's curse, is characterized by idiopathic failure of autonomic breathing and is often associated with neurocristopathies such as Hirschsprung disease (HSCR). CCHS is caused by mutations in the paired-like homeobox 2B (PHOX2B)...

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PMID: 21373876
DOI: 10.1007/s00431-011-1434-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21373876-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.PMID 21373876Read ↗

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