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

@article{Casey2011FirstIO,
  title={First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.},
  author={Jillian P Casey and Riki Kawaguchi and Maria E. Morrissey and Hui Sun and Paul A. McGettigan and Jens Erik Nielsen and Judith A. Conroy and Regina Regan and Elaine Kenny and Paul Cormican and Derek W. Morris and Peter J. Tormey and Muireann N{\'i} Chr{\'o}in{\'i}n and Breand{\'a}n N Kennedy and Sallyann Lynch and Andrew Michael Green and Sean Ennis},
  journal={Human mutation},
  year={2011},
  volume={32 12},
  pages={
          1417-26
        }
}
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 causative mutation for autosomal recessive isolated colobomatous microanophthalmia… CONTINUE READING
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