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Article

Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.

Investigative ophthalmology & visual science - 1 Nov 2004

Aijaz Saima, Clark Brian J, Williamson Kathleen, van Heyningen Veronica, Morrison Danny, Fitzpatrick David, Collin Richard, Ragge Nicola, Christoforou Andrea, Brown Alison, Hanson Isabel

Abstract excerpt

PURPOSE: To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6. METHODS: The two exons of the SIX6 gene were amplified by PCR from patients' genomic DNA and directly sequenced to search for mutations. The PCR products of 75 patients were also analyzed by denaturing high-performance liquid chromatography (DHPLC). RESULTS: Six SIX6...

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Source

Identifiers

PMID: 15505031
DOI: 10.1167/iovs.04-0641

Genes

SIX6

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.

Related research

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Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.PMID 15505031Read ↗

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First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.Semantic proximity Read ↗

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Identification and genotype phenotype correlation of novel mutations in SIX6 gene in primary open angle glaucoma.Semantic proximity Read ↗

Novel compound heterozygous variants in SIX6 cause a PAX2 like Dysplastic Optic Disc with macular abnormalities without coexistent microphthalmia or cataract.Semantic proximity Read ↗

Homozygous truncation of SIX6 causes complex microphthalmia in humans.Semantic proximity Read ↗

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