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Article

Mutation in PITX2 is associated with ring dermoid of the cornea.

Journal of medical genetics - 1 Dec 2004

Xia K, Wu L, Liu X, Xi X, Liang D, Zheng D, Cai F, Pan Q, Long Z, Dai H, Hu Z, Tang B, Zhang Z, Xia J

Abstract excerpt

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Share to Asian People
Share to Chromosomes, Human, Pair 4
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeobox Protein PITX2

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Source

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Identifiers

PMID: 15591271
DOI: 10.1136/jmg.2004.022434
PMCID: PMC1735645

Genes

PITX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation in PITX2 is associated with ring dermoid of the cornea.PMID 15591271Read ↗

Corneal Plana-Like Phenotype With Peripheral Scleralization Associated With a Pathogenic Variant of PITX2 : A Case Report.Semantic proximity Read ↗

A novel mutation in PRDM5 in brittle cornea syndrome.Semantic proximity Read ↗

Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous.Semantic proximity Read ↗

Autosomal dominant iris hypoplasia is caused by a mutation in the rieger syndrome (rieg/pitx2) geneSemantic proximity Read ↗

A novel PITX2 mutation in non‐syndromic orodental anomaliesSemantic proximity Read ↗

New ocular phenotype associated with a mutation in the PAX2 gene.Semantic proximity Read ↗

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation.Semantic proximity Read ↗

PITX2 deficiency and associated human disease: insights from the zebrafish model.Semantic proximity Read ↗

Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

PITX2 loss-of-function mutation contributes to tetralogy of FallotSemantic proximity Read ↗

A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy.Semantic proximity Read ↗

What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.Semantic proximity Read ↗

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