Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia
C Nur Semerci, Ersan Kalay, Cem Yıldırım, Tuba Dinçer, Akgün Ölmez, Bayram Toraman, Ali Koçyiğit, Yunus Bulgu, Volkan Okur, Lale Şatıroğlu-Tufan, Nurten A Akarsu
British Journal of Ophthalmology Jun 2014, 98 (6) 832-840; DOI: 10.1136/bjophthalmol-2013-304058