Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

by Jiasun Su, Huayu Fu, Bobo Xie, Weiliang Lu, Wei Li, Yuan Wei, Qiang Zhang, Shengkai Wei, Qiuli Chen, Yingchi Lu, Tingting Jiang, Jingsi Luo, Zailong Qin
Published 2019-12-01

Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gen...

by Weiliang Lu, Mingxing Liang, Jiasun Su, Jin Wang, Lingxiao Li, Shujie Zhang, Zailong Qin, Limei Huang, Yingchi Lu, Shang Yi, Sheng Yi, BoBo Xie, Haiyang Zheng, Jingsi Luo, Xiaoyan Gao, Yiping Shen
Published 2020-05-01