Novel < em > ATF6 < /em > homozygous variant in a Chinese patient with achromatopsia

CONCLUSIONS: We reported detailed clinical features and genetic analysis of a new Chinese ATF6-associated patient with ACHM.PMID:38419580 | DOI:10.1080/13816810.2024.2322643

Source: Ophthalmic Genetics - February 29, 2024 Category: Opthalmology Authors: Shijing Wu Yinhui Yu Yao Wang Li Zhang Xiaoyun Fang Panpan Ye Jian Ma Source Type: research