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

Internet

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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