Ren Cai Fatao Liu Chen Hua Zhang Yu Michele Ramien Claudia Malic Wenxin Yu Xiaolin Zhang Yun Liu Yunbo Jin Xun Hu Xiaoxi Lin
10.1186/s41065-018-0062-8
Hereditas
2018 Jul 16;155:24.
capillary malformation-arteriovenous malformation china east asia rasa-1 mutation rasgap
CC BY
https://pubmed.ncbi.nlm.nih.gov/30026675/
Arteriovenous Malformations / genetics Capillaries / abnormalities Germ-Line Mutation Port-Wine Stain / genetics p120 GTPase Activating Protein / genetics
Arteriovenous Malformations / genetics Capillaries / abnormalities Germ-Line Mutation Port-Wine Stain / genetics p120 GTPase Activating Protein / genetics Case Reports Asian People Child, Preschool DNA Mutational Analysis Humans Male RASA1 protein, human p120 GTPase Activating Protein Capillary Malformation-Arteriovenous Malformation
PMC6048896
30026675
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia
2018