Article
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
Clinical genetics - 1 Nov 2015
Slavotinek A M, Garcia S T, Chandratillake G, Bardakjian T, Ullah E, Wu D, Umeda K, Lao R, Tang P L-F, Wan E, Madireddy L, Lyalina S, Mendelsohn B A, Dugan S, Tirch J, Tischler R, Harris J, Clark M J, Chervitz S, Patwardhan A, West J M, Ursell P, de Alba Campomanes A, Schneider A, Kwok P-Y, Baranzini S, Chen R O
Abstract excerpt
Anophthalmia/microphthalmia (A/M) is a genetically heterogeneous birth defect for which the etiology is unknown in more than 50% of patients. We used exome sequencing with the ACE Exome(TM) (Personalis, Inc; 18 cases) and UCSF Genomics Core (21 cases) to sequence 28 patients with A/M and four patients with varied developmental eye defects. In the 28 patients with A/M, we identified de novo mutations in three...
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