Anal Atresia, Coloboma, Microphthalmia, and Nasal Skin Tag in a Female Patient with 3.5‚ÄâMb Deletion of 3q26 encompassing SOX2

Salem NJ, Hempel M, Heiliger KJ, Hosie S, Meitinger T, Oexle K. Anal Atresia, Coloboma, Microphthalmia, and Nasal Skin Tag in a Female Patient with 3.5 Mb Deletion of 3q26 encompassing SOX2. Am J Med Genet A. 2013 Apr 23. [Epub ahead of print].

PubMed ID: 
23613260