Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome

por Li, Mojiang, Li, Yingshu, Liu, Huixing, Zhou, Haiyan, Xie, Wanqin, Peng, Qinghua
Publicado 2022

Novel Mutations of PAX6 and WFS1 Associated With Congenital Cataract in a Chinese Family

por Sheng, Dan, Yang, Duo, Xie, Wanqin, Li, Mojiang, Zhong, Liqin, Zhao, Shuangxi, Liang, Hao
Publicado 2023