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A novel <i>RASA1</i> mutation causing capillary malformation–arteriovenous malformation (CM–AVM) presenting during pregnancy

17 May 2013

Abstract excerpt

Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized clinical entity caused by mutation of the RASA1 gene, which encodes p120-RasGAP. Here we describe, for the first time, a patient with CM-AVM presenting during the late stages of pregnancy with pulmonary "capillary level" microvascular shunt, worsening cutaneous capillary malformations, and gross fluid overload. Sequencing revealed a...

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PMID: 23687085
DOI: 10.1002/ajmg.a.35935

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