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Article

Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.

The British journal of ophthalmology - 1 Aug 2010

Gonzalez-Rodriguez J, Pelcastre E L, Tovilla-Canales J L, Garcia-Ortiz J E, Amato-Almanza M, Villanueva-Mendoza C, Espinosa-Mattar Z, Zenteno J C

Abstract excerpt

BACKGROUND/AIMS: Microphthalmia-anophthalmia-coloboma (MAC) are congenital eye malformations causing a significant percentage of visually impairments in children. Although these anomalies can arise from prenatal exposure to teratogens, mutations in well-defined genes originate potentially heritable forms of MAC. Mutations in genes such as CHX10, GDF6, RAX, SOX2 and OTX2, among others, have been recognised in...

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Source

Identifiers

PMID: 20494911
DOI: 10.1136/bjo.2009.173500

Genes

GDF6
OTX2
SOX2
RAX

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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