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Article

Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case.

The Tohoku journal of experimental medicine - 1 Apr 2002

Kanai Masayo, Numakura Chikahiko, Sasaki Ayako, Shirahata Emi, Akaba Kazuhiro, Hashimoto Motoya, Hasegawa Hisaya, Shirasawa Senji, Hayasaka Kiyoshi

Abstract excerpt

Recently, a few genetic abnormalities were identified in congenital central hypoventilation syndrome (CCHS or Ondine's curse). CCHS is often associated with other neurocristopathies, especially with Hirschsprung's disease (HSCR). Mutations of the genes involved in the receptor tyrosine kinase RET (REarranged during Transfection) (RET)-glial cell line-derived neurotrophic factor (GDNF) and/or endothelin 3...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12086152
DOI: 10.1620/tjem.196.241

Genes

RET
EDN3
EDNRB
GDNF

Provenance

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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