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

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 gene, which...

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Detalles Bibliográficos
Autores principales:	Yang, Qi, Qin, Zailong, Zhang, Qinle, Yi, Shang, Yi, Sheng, Luo, Jingsi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8943999/ https://www.ncbi.nlm.nih.gov/pubmed/35321723 http://dx.doi.org/10.1186/s12920-022-01217-9

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