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Article

Functional analysis of human mutations in homeodomain transcription factor PITX3.

BMC molecular biology - 21 Sept 2007

Sakazume Satoru, Sorokina Elena, Iwamoto Yoshiki, Semina Elena V

Abstract excerpt

BACKGROUND: The homeodomain-containing transcription factor PITX3 was shown to be essential for normal eye development in vertebrates. Human patients with point mutations in PITX3 demonstrate congenital cataracts along with anterior segment defects in some cases when one allele is affected and microphthalmia with brain malformations when both copies are mutated. The functional consequences of these human...

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Share to Anterior Eye Segment
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17888164
DOI: 10.1186/1471-2199-8-84
PMCID: PMC2093940

Genes

PITX3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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