Ontology highlight
ABSTRACT:
SUBMITTER: Cai R
PROVIDER: S-EPMC6048896 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Cai Ren R Liu Fatao F Hua Chen C Yu Zhang Z Ramien Michele M Malic Claudia C Yu Wenxin W Zhang Xiaolin X Liu Yun Y Jin Yunbo Y Hu Xun X Lin Xiaoxi X
Hereditas 20180716
Capillary malformation-arteriovenous malformation (CM-AVM) is a clinical entity newly identified in 2003 that is caused by mutation of the RASA-1 gene, which encodes the protein p120-RasGAP. To date, most of the clinical reports on CM-AVM in the literature involve samples entirely consisting of Caucasians of European and North American descent, while reports from China or East Asia are few. Here, we describe a genetic clinical report of CM-AVM. Sequencing revealed a novel stop mutation in the RA ...[more]