Whole-genome copy number variation analysis in anophthalmia and microphthalmia.

@article{Schilter2013WholegenomeCN,
  title={Whole-genome copy number variation analysis in anophthalmia and microphthalmia.},
  author={Kala F. Schilter and Linda M. Reis and Anouck Schneider and Tanya M. Bardakjian and Omar Abdul-Rahman and Beth A Kozel and Holly H. Zimmerman and Ulrich Broeckel and Elena V Semina},
  journal={Clinical genetics},
  year={2013},
  volume={84 5},
  pages={
          473-81
        }
}
Anophthalmia/microphthalmia (A/M) represent severe developmental ocular malformations. Currently, mutations in known genes explain less than 40% of A/M cases. We performed whole-genome copy number variation analysis in 60 patients affected with isolated or syndromic A/M. Pathogenic deletions of 3q26 (SOX2) were identified in four independent patients with syndromic microphthalmia. Other variants of interest included regions with a known role in human disease (likely pathogenic) as well as novel… CONTINUE READING
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