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

doi:10.1136/jmg.27.10.618

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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...

Topics

Adult
Alleles
Animals
Child, Preschool
Chromosome Mapping
Cricetinae
Disease Models, Animal
Female
Genes, Dominant
Genetic Linkage
Genetic Variation
Humans
Mice
Mice, Mutant Strains
Mutation
Phenotype
Proto-Oncogene Mas
Waardenburg Syndrome

Source

Open in PubMed Open full text

Identifiers

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

Genes

FN1
KIT
RAF1
RHO

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2246770-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.