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Clinical familial capillary malformation: Arteriovenous malformation syndrome without RASA1 mutation


Book ID
122457026
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
41 KB
Volume
68
Category
Article
ISSN
1097-6787

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## Communicated by Peter Byers Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized autosomal dominant disorder, caused by mutations in the RASA1 gene in six families. Here we report 42 novel RASA1 mutations and the associated phenotype in 44 families. The penetrance and