Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation-dependent probe amplification in an infant with congenital generalized lipo...

por Xie, Bobo, Fan, Xin, Lei, Yaqin, Yi, Shang, Yang, Qi, Wang, Jin, Qin, Zailong, Shen, Fei, Luo, Jingsi, Shen, Yiping
Publicado 2020

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

por Xie, Bobo, Fan, Xin, Lei, Yaqin, Chen, Rongyu, Wang, Jin, Fu, Chunyun, Yi, Shang, Luo, Jingsi, Zhang, Shujie, Yang, Qi, Chen, Shaoke, Shen, Yiping
Publicado 2016