Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease.

Pediatric surgery international - 1 Dec 2005

Sangkhathat Surasak, Chiengkriwate Piyawan, Kusafuka Takeshi, Patrapinyokul Sakda, Fukuzawa Masahiro

Abstract excerpt

Homozygous mutations of EDNRB in human have been reported to result in Waardenburg-Hirschsprung disease (WS4), while mutated heterozygotes manifested isolated Hirschsprung disease in lower penetrance. We investigated a case of WS4 together with all members of her nuclear family for the alteration of the EDNRB gene by using PCR-SSCP and direct sequencing technique. The index patient, who was born to a family with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Hirschsprung Disease
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Mutation, Missense

Share to Nuclear Family

Share to Pedigree

Share to Receptor, Endothelin B

Share to Waardenburg Syndrome

Source

Identifiers

PMID: 16237557
DOI: 10.1007/s00383-005-1553-z

Genes

EDNRB

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease.PMID 16237557Read ↗

Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease.Semantic proximity Read ↗

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.Semantic proximity Read ↗

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.Semantic proximity Read ↗

A Novel Mutation in the Endothelin B Receptor Gene in a Moroccan Family with Shah-Waardenburg SyndromeSemantic proximity Read ↗

New variations of the EDNRB gene and its association with sporadic Hirschsprung's disease in Korea.Semantic proximity Read ↗

Mutation analysis of endothelin-B receptor gene in patients with Hirschsprung disease in Taiwan.Semantic proximity Read ↗

A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene.Semantic proximity Read ↗

SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.Semantic proximity Read ↗

A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's diseaseSemantic proximity Read ↗

Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization.Semantic proximity Read ↗

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).Semantic proximity Read ↗

High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.