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

• Main Authors: Qi Yang (Author), Zailong Qin (Author), Qinle Zhang (Author), Shang Yi (Author), Sheng Yi (Author), Jingsi Luo (Author)
• פורמט: ספר
• יצא לאור: BMC, 2022-03-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract SMG9-deficiency syndrome, also known as heart and brain malformation syndrome, is a very rare congenital genetic disorder mainly characterized by brain, heart, and growth and developmental abnormalities. This syndrome is an autosomal recessive disease resulting from mutations in the SMG9 ge...