Tag: FBN1 gene

Mutation analysis of the autosomal dominant Weill-Marchesani syndrome and genotype-phenotype review

Authors: Li Jie,  Xing Yasi,  Li Zhanrong,  Qin Fangyuan,  Dai Shuzhen DOI: 10.3760/cma.j.issn.2095-0160.2018.07.006 Published 2018-07-10 Cite as Chin J Exp Ophthalmol, 2018,36(7): 514-518. Abstract                              [Download PDF] [Read Full Text] Objective To screen the disease-causing genes in an autosomal dominant(AD)Weill-Marchesani syndrome (WMS) family from Henan province in […]