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Article

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

Human mutation - 1 Dec 2011

Casey Jillian, Kawaguchi Riki, Morrissey Maria, Sun Hui, McGettigan Paul, Nielsen Jens E, Conroy Judith, Regan Regina, Kenny Elaine, Cormican Paul, Morris Derek W, Tormey Peter, Chróinín Muireann Ní, Kennedy Breandan N, Lynch SallyAnn, Green Andrew, Ennis Sean

Abstract excerpt

Microphthalmia, anophthalmia, and coloboma (MAC) are structural congenital eye malformations that cause a significant proportion of childhood visual impairments. Several disease genes have been identified but do not account for all MAC cases, suggesting that additional risk loci exist. We used single nucleotide polymorphism (SNP) homozygosity mapping (HM) and targeted next-generation sequencing to identify the...

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Identifiers

PMID: 21901792
DOI: 10.1002/humu.21590
PMCID: PMC3918001

Genes

STRA6

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