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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 mo...

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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 2 Sept 2026. Prepared record publication-15715979-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

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

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