Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms <it>SOX2</it>, <it>OTX2</it> and <it>FOXE3</it> mutations

Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms <it>SOX2</it>, <it>OTX2</it> and <it>FOXE3</it> mutations

<p>Abstract</p> <p>Background</p> <p>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 si...

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Bibliographic Details
Main Authors: Lopez Jimenez Nelson, Flannick Jason, Yahyavi Mani, Li Jiang, Bardakjian Tanya, Tonkin Leath, Schneider Adele, Sherr Elliott H, Slavotinek Anne M
Format: Article
Language:English
Published: BMC 2011-12-01
Series:BMC Medical Genetics
Subjects:
anophthalmia
microphthalmia
next-generation sequencing
<it>SOX2</it>
<it>OTX2</it>
<it>FOXE3</it>
Online Access:http://www.biomedcentral.com/1471-2350/12/172

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http://www.biomedcentral.com/1471-2350/12/172

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