LAUSR

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

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0 Published in 2017 at "Circulation"

DOI: 10.1161/circulationaha.116.026886

Abstract: Background: Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as hereditary hemorrhagic telangiectasia and capillary malformation (CM)-AVM. Previously, we identified RASA1 mutations in 50%… read more here.

Keywords: capillary malformation; loss function; malformation; germline loss ... See more keywords