Novel compound heterozygous variants in LTBP2 associated with relative anterior microphthalmos.

Peimin LinJie XuAo MiaoYi LuYong-Xiang JiangTianyu Zheng

Published in: European journal of ophthalmology (2024)

gene variants related to RAM. Considering the importance of LTBP2 in ocular development, we provide initial insights into the potential pathogenic mechanisms of LTBP2 in RAM.

Keyphrases

copy number
genome wide
early onset
dna methylation
optic nerve