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

• Príomhchruthaitheoirí: Lopez Jimenez Nelson (Údar), Flannick Jason (Údar), Yahyavi Mani (Údar), Li Jiang (Údar), Bardakjian Tanya (Údar), Tonkin Leath (Údar), Schneider Adele (Údar), Sherr Elliott H (Údar), Slavotinek Anne M (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: BMC, 2011-12-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: 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...