From: Mutational spectrum of syndromic genes in sporadic brain arteriovenous malformation
Syndrome
Gene
Ref
Hereditary hemorrhagic telangiectasia
ENG
[17]
ACVRL1
[18]
BMPR2
[19]
SMAD4
[20]
Capillary malformation-arteriovenous malformation
RASA1
[21]
Sturge-Weber syndrome
GNAQ
[22]