Article
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
BMC medical genetics - 28 Dec 2011
Jimenez Nelson Lopez, Flannick Jason, Yahyavi Mani, Li Jiang, Bardakjian Tanya, Tonkin Leath, Schneider Adele, Sherr Elliott H, Slavotinek Anne M
Abstract excerpt
BACKGROUND: Anophthalmia/microphthalmia (A/M) is caused by mutations in several different transcription factors, but mutations in each causative gene are relatively rare, emphasizing the need for a testing approach that screens multiple genes simultaneously. We used next-generation sequencing to screen 15 A/M patients for mutations in 9 pathogenic genes to evaluate this technology for screening in A/M. METHODS:...
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