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

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

Induced pluripotent stem cells (SHCDNi006-A cells) isolated from the peripheral blood mononuclear cells of a five-month-old Chinese girl with the heterozygous missense mutation (c....

Por Xiaona Luo, Yilin Wang, Fang Yuan, Longlong Lin, Anqi Wang, Chao Wang, Miao Guo, Simei Wang, Chunmei Wang, Quanmei Xu, Rongrong Yin, Hongyi Cheng, Yuanfeng Zhang, Zhiping Liu, Wuhen Xu, Jingbin Yan, Fanyi Zeng, Yucai Chen
Publicado em 2022-07-01