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Article

Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform.

Gene - 28 Feb 2005

Hershey Christine L, Fisher David E

Abstract excerpt

The deafness-pigmentary disorder Waardenburg Syndrome Type 2 is caused by mutations in the human Microphthalmia-associated transcription factor (MITF) gene. Multiple related deafness-pigmentary disorders result from mutations in genes that regulate MITF expression or its activity. Similarly in mouse, homozygous mutations in the Mitf gene disrupt the development of melanocytes as well as retinal pigment epithelial...

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Source

Identifiers

PMID: 15715979
DOI: 10.1016/j.gene.2004.12.002

Genes

MITF
RPE

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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