Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1
Mao Lin, Zhenlei Liu, Gang Liu, Sen Zhao, Chao Li, Wei‐Sheng Chen, Zeynep Coban‐Akdemir, Jiachen Lin, Xiaofei Song, Shengru Wang, Qiming Xu, Yanxue Zhao, Lianlei Wang, Yuanqiang Zhang, Zihui Yan, , Nan Wu
The paper investigates how different FBN1 truncating mutations cause distinct clinical phenotypes in Marfan syndrome and Marfanoid-progeroid-lipodystrophy syndrome through molecular and genetic analysis.
Molecular Genetics & Genomic Medicine · Nov 27, 2019Peer-reviewedGenetics