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Papers of the Week


2020 Jul 16


Int J Legal Med

A novel splicing mutation in Marfan syndrome.

Authors

Zhao S, Duan Y, Huang F, Shi Q, Liu Q, Zhou Y
Int J Legal Med. 2020 Jul 16.
PMID: 32676886.

Abstract

Marfan syndrome (MFS) is a connective tissue disease involving multiple organs and systems such as cardiovascular, skeletal, and ocular systems and is also an autosomal dominant inheritance disorder.