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Article

Mouse and hamster mutants as models for Waardenburg syndromes in humans.

Journal of medical genetics - 1 Oct 1990

Asher J H, Friedman T B

Abstract excerpt

Four different Waardenburg syndromes have been defined based upon observed phenotypes. These syndromes are responsible for approximately 2% of subjects with profound congenital hearing loss. At present, Waardenburg syndromes have not been mapped to particular human chromosomes. One or more of the mouse mutant alleles, Ph (patch), s (piebald), Sp (splotch), and Mior (microphthalmia-Oak Ridge) and the hamster...

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Identifiers

PMID: 2246770
DOI: 10.1136/jmg.27.10.618
PMCID: PMC1017240

Genes

FN1
KIT
RAF1
RHO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mouse and hamster mutants as models for Waardenburg syndromes in humans.PMID 2246770Read ↗

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PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.Semantic proximity Read ↗

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Modeling RASopathies with Genetically Modified Mouse Models.Semantic proximity Read ↗

Structural analysis of chromosomal rearrangements associated with the developmental mutations Ph, W19H, and Rw on mouse chromosome 5.Semantic proximity Read ↗

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