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Article

PITX2 deficiency and associated human disease: insights from the zebrafish model.

Human molecular genetics - 15 May 2018

Hendee Kathryn E, Sorokina Elena A, Muheisen Sanaa S, Reis Linda M, Tyler Rebecca C, Markovic Vujica, Cuturilo Goran, Link Brian A, Semina Elena V

Abstract excerpt

The PITX2 (paired-like homeodomain 2) gene encodes a bicoid-like homeodomain transcription factor linked with several human disorders. The main associated congenital phenotype is Axenfeld-Rieger syndrome, type 1, an autosomal dominant condition characterized by variable defects in the anterior segment of the eye, an increased risk of glaucoma, craniofacial dysmorphism and dental and umbilical anomalies; in...

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Source

Open in PubMed Open full text

Identifiers

PMID: 29506241
DOI: 10.1093/hmg/ddy074
PMCID: PMC5932568

Genes

PITX2

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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