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Article

Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET.

American journal of medical genetics - 28 Jun 1996

Bolk S, Angrist M, Schwartz S, Silvestri J M, Weese-Mayer D E, Chakravarti A

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) usually occurs as an isolated phenotype. However, 16% of the index cases are also affected with Hirschsprung disease (HSCR). Complex segregation analysis suggests that CCHS is familial and has the same inheritance pattern with or without HSCR. We...

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Source

Identifiers

PMID: 8826440
DOI: 10.1002/(SICI)1096-8628(19960628)63:4<603::AID-AJMG14>3.0.CO;2-M

Genes

RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8826440-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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