A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report

BACKGROUND: Marfan syndrome (MFS) is a common autosomal dominant inherited disease, and the occurrence rate is around 0.1–0.2‰. The causative variant of FNB1 gene accounts for approximately 70–80% of all MFS cases. In this study, we found a heterozygous c.3217G > T (p.Glu1073*) nonsense variant i...

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Detalles Bibliográficos
Autores principales: Niu, Yuping, Huang, Sexin, Wang, Zeyu, Xu, Peiwen, Wang, Lijuan, Li, Jie, Gao, Ming, Gao, Xuan, Gao, Yuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7579915/
https://www.ncbi.nlm.nih.gov/pubmed/33087052
http://dx.doi.org/10.1186/s12881-020-01148-1

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