A novel variant in AIRE causing a rare, non-classical autoimmune polyendocrine syndrome type 1

por Zheng, Wen-Bin, Li, Lu-Jiao, Zhao, Di-Chen, Wang, Ou, Jiang, Yan, Xia, Wei-Bo, Li, Mei
Publicado 2020

Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system

por Li, Lu-Jiao, Lyu, Fang, Song, Yu-Wen, Wang, Ou, Jiang, Yan, Xia, Wei-Bo, Xing, Xiao-Ping, Li, Mei
Publicado 2019

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita

por Zheng, Wen‐bin, Li, Lu‐jiao, Zhao, Di‐chen, Wang, Ou, Jiang, Yan, Xia, Wei‐bo, Xing, Xiao‐ping, Li, Mei
Publicado 2020

A novel mutation in PLS3 causes extremely rare X‐linked osteogenesis imperfecta

por Hu, Jing, Li, Lu‐jiao, Zheng, Wen‐bin, Zhao, Di‐chen, Wang, Ou, Jiang, Yan, Xing, Xiao‐ping, Li, Mei, Xia, Weibo
Publicado 2020