Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia


Semerci C. N. , KALAY E., Yildirim C., DİNÇER T., Olmez A., TORAMAN B., ...More

BRITISH JOURNAL OF OPHTHALMOLOGY, vol.98, no.6, pp.832-840, 2014 (SCI-Expanded) identifier identifier identifier

Abstract

Aim This study aimed to identify the underlying genetic defect responsible for anophthalmia/microphthalmia.