Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia

par Yuhua Pan, Xiaoling Guo, Xiaoqiang Zhou, Yue Liu, Jingli Lian, Tingting Yang, Xiang Huang, Fei He, Jian Zhang, Buling Wu, Fu Xiong, Fu Xiong, Fu Xiong, Xingkun Yang
Publié 2021

Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia

par Jian Wang, Jian Wang, Shiyuan Zhou, Fei He, Xuelian Zhang, Jianqi Lu, Jian Zhang, Feng Zhang, Xiangmin Xu, Xiangmin Xu, Fang Yang, Fu Xiong, Fu Xiong, Fu Xiong
Publié 2021