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