Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case

ConclusionWe firstly reported this case of OCA4 with the compound heterozygous variants in theSLC45A2 gene. Our findings further enrich the reservoir ofSLC45A2 mutations in OCA4.

https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2385?af=R

Source: Molecular Genetics & Genomic Medicine - February 10, 2024 Category: Genetics & Stem Cells Authors: Danyue He, Xiaonan Liu, Tianyu Yao, Jie Hu, Xiaodong Zheng, Lili Tang, Xing Fan Tags: CLINICAL REPORT Source Type: research