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Article

Haddad syndrome with PHOX2B gene mutation in a Korean infant.

Journal of Korean medical science - 1 Feb 2011

Lee Chung-Won, Lee Jae-Ho, Jung Eun-Young, Choi Soon-Ok, Kim Chun-Soo, Lee Sang-Lak, Kim Dae-Kwang

Abstract excerpt

Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is an extremely rare disorder with variable symptoms. Recent studies described that congenital central hypoventilation syndrome had deep relation to the mutation of the PHOX2B gene in its diagn...

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Identifiers

PMID: 21286029
DOI: 10.3346/jkms.2011.26.2.312
PMCID: PMC3031022

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21286029-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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