Condition: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
rs1330628156 in
EPHB4 gene and
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
PMID 30578106 2019 Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.
PMID 28687708 2017 Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
PMID 28730721 2017 EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report.
PMID 29444212 2018 Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.