Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome

Background Marfan syndrome (MFS) is an inherited connective tissue disorder affecting the ocular, skeletal and cardiovascular systems. Previous studies of MFS have demonstrated the association between genetic defects and clinical manifestations. Our purpose was to investigate the role of novel genet...

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Détails bibliographiques
Auteurs principaux: Zhening Pu, Haoliang Sun, Junjie Du, Yue Cheng, Keshuai He, Buqing Ni, Weidong Gu, Juncheng Dai, Yongfeng Shao
Format: Artigo
Langue:Inglês
Publié: PeerJ Inc. 2018-11-01
Collection:PeerJ
Sujets:
Rare genetic variant
Marfan syndrome
FBN1
Whole-exome sequencing
Accès en ligne:https://peerj.com/articles/5927.pdf
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