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Article

pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish.

PloS one - 1 Jan 2012

Liu Yi, Semina Elena V

Abstract excerpt

Human PITX2 mutations are associated with Axenfeld-Rieger syndrome, an autosomal-dominant developmental disorder that involves ocular anterior segment defects, dental hypoplasia, craniofacial dysmorphism and umbilical abnormalities. Characterization of the PITX2 pathway and identification of the mechanisms underlying the anomalies associated with PITX2 deficiency is important for better understanding of normal...

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Share to Craniofacial Abnormalities
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 22303467
DOI: 10.1371/journal.pone.0030896
PMCID: PMC3267762

Genes

PITX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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