Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing

Yang, Q; Qin, ZL; Zhang, QL; Yi, S; Yi, S; Luo, JS

Luo, JS (通讯作者)，Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Reprod Hlth & Birth Defects Preve, 59 Xiangzhu Rd, Nanning, Peoples R China.;Luo, JS (通讯作者)，Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Dept Genet & Metab Cent Lab, Nanning, Peoples R China.

BMC MEDICAL GENOMICS, 2022; 15 (1):

Abstract

SMG9-deficiency syndrome, also known as heart and brain malformation syndrome, is a very rare congenital genetic disorder mainly characterized by brai......

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