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

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...

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Principais autores:	Qi Yang, Zailong Qin, Qinle Zhang, Shang Yi, Sheng Yi, Jingsi Luo
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2022-03-01
coleção:	BMC Medical Genomics
Assuntos:	SMG9-deficiency syndrome SMG9 Whole exome sequencing Novel variants
Acesso em linha:	https://doi.org/10.1186/s12920-022-01217-9
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