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Article

Molecular analysis of congenital central hypoventilation syndrome.

Human genetics - 1 Dec 2003

Sasaki Ayako, Kanai Masayo, Kijima Kazuki, Akaba Kazuhiro, Hashimoto Motoya, Hasegawa Hisaya, Otaki Shinsuke, Koizumi Takenobu, Kusuda Satoshi, Ogawa Youhei, Tuchiya Keiji, Yamamoto Wakako, Nakamura Tomohiko, Hayasaka Kiyoshi

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a disorder characterized by an idiopathic failure of the automatic control of breathing. CCHS is frequently complicated with neurocristopathies such as Hirschsprung's disease (HSCR). The genes involved in the RET-GDNF signaling and/or EDN3-EDNRB signaling pathways have been analyzed as candidates for CCHS; however, only a few...

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Source

Identifiers

PMID: 14566559
DOI: 10.1007/s00439-003-1036-z

Genes

RET
EDN3
GDNF
GFRA1
EDNRB
BDNF
EDN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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