De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families

by Xiaojun Tang, Xiaoping Lan, Xiaozhen Song, Wuhen Xu, Yuanfeng Zhang, Hong Zhang, Shengnan Wu
Published 2020-11-01

Spectrum of RB1 Germline Mutations and Clinical Features in Unrelated Chinese Patients With Retinoblastoma

by Xiaoping Lan, Wuhen Xu, Xiaojun Tang, Haiyun Ye, Xiaozhen Song, Longlong Lin, Xiang Ren, Guangjun Yu, Hong Zhang, Shengnan Wu
Published 2020-03-01

A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2

by Jincai Feng, Xiaoping Lan, Jun Shen, Xiaozhen Song, Xiaojun Tang, Wuhen Xu, Xiang Ren, Hong Zhang, Guangjun Yu, Shengnan Wu
Published 2020-02-01

Case Report: A Novel Compound Heterozygous Mutation in IL-10RA in a Chinese Child With Very Early-Onset Inflammatory Bowel Disease

by Fang Dong, Fangfei Xiao, Ting Ge, Xiaolu Li, Wuhen Xu, Shengnan Wu, Ting Zhang, Ting Zhang, Yizhong Wang, Yizhong Wang
Published 2021-05-01

Generation and characterization of an iPSC line (SHCMDLi001-A) from a 12-year-old Chinese Han patient with TRAF7 syndrome and of an iPSC line (SHCMDLi002-A) from a control individu...

by Xiaozhen Song, Jincai Feng, Xiaoping Lan, Xiaojun Tang, Wuhen Xu, Jun Shen, Guangjun Yu, Jia Jia, Hong Zhang, Qing Lu, Shengnan Wu
Published 2021-05-01