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Article

Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.

Human mutation - 1 Apr 2018

Anand Deepti, Agrawal Smriti A, Slavotinek Anne, Lachke Salil A

Abstract excerpt

Mutations in the transcription factor genes FOXE3, HSF4, MAF, and PITX3 cause congenital lens defects including cataracts that may be accompanied by defects in other components of the eye or in nonocular tissues. We comprehensively describe here all the variants in FOXE3, HSF4, MAF, and PITX3 genes linked to human developmental defects. A total of 52 variants for FOXE3, 18 variants for HSF4, 20 variants for MAF,...

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Source

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Identifiers

PMID: 29314435
DOI: 10.1002/humu.23395
PMCID: PMC5839989

Genes

FOXE3
HSF4
MAF
PITX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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