Condition: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
rs1554050230
in
CCNH;RASA1
gene and
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
PMID 24038909
2013 RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
PMID 26499346
2016 A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations.
PMID 29120072
2018 RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis.
rs1204340475
in
RASA1;CCNH
gene and
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
PMID 24038909
2013 RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
PMID 18446851
2008 Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.
PMID 23164092
2012 CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy.