Article
RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations.
The British journal of dermatology - 1 May 2008
Hershkovitz D, Bercovich D, Sprecher E, Lapidot M
Abstract excerpt
BACKGROUND: Capillary malformation (CM), a common vascular abnormality, is often present among family members. Recently a rare form of hereditary vascular malformation termed capillary malformation-arteriovenous malformation (CM-AVM) was shown to be caused by heterozygous mutations in RASA1, encoding RAS p21 protein activator 1. CM-AVM is characterized by multiple, small CMs associated with either AVM or...
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