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

• Main Authors: Lopez Jimenez Nelson (Author), Flannick Jason (Author), Yahyavi Mani (Author), Li Jiang (Author), Bardakjian Tanya (Author), Tonkin Leath (Author), Schneider Adele (Author), Sherr Elliott H (Author), Slavotinek Anne M (Author)
• Format: Book
• Published: BMC, 2011-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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...