Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation

por Li, Haijun, Li, Zhiming, Wang, Degang, Chen, Chuanming, Chen, Zhiqiang, Wang, Jinhua, Xu, Chenxia, Dong, Xingsheng
Publicado 2022

Prenatal diagnosis of Bardet‑Biedl syndrome due to novel variants in the BBS10 gene in a fetus with multiple anomalies: A case report

por Dong, Xingsheng, Li, Zhiming, Wang, Degang, Xiong, Yi, Li, Haijun, Yang, Pu, Lao, Lanyu, Man, Tingting, Gan, Yujie
Publicado 2022