Case report: Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping

by Jieni Jiang, Jieni Jiang, Jieni Jiang, Xiaotang Cai, Xiaotang Cai, Haibo Qu, Haibo Qu, Qiang Yao, Qiang Yao, Tiantian He, Tiantian He, Tiantian He, Mei Yang, Mei Yang, Mei Yang, Hui Zhou, Hui Zhou, Xuemei Zhang, Xuemei Zhang, Xuemei Zhang
Published 2024-02-01

A novel splicing variation in L1CAM is responsible for recurrent fetal hydrocephalus

by Tiantian He, Qiang Yao, Bocheng Xu, Mei Yang, Jieni Jiang, Qingqing Xiang, Like Xiao, Shanling Liu, He Wang, Xuemei Zhang
Published 2023-11-01