A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD

The genotype characteristics and their associated clinical phenotypes in patients with aniridia were analyzed to explore pathogenic variants using whole-exome sequencing.

Source: BMC Medical Genomics - August 4, 2023 Category: Genetics & Stem Cells Authors: Qian Wang, Wen Bin Wei, Xiang Yu Shi and Wei Ning Rong Tags: Research Source Type: research