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  • Title: Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis.
    Author: Overcash RT, Gibu CK, Jones MC, Ramos GA, Andreasen TS.
    Journal: Am J Med Genet A; 2015 Oct; 167A(10):2440-3. PubMed ID: 26096958.
    Abstract:
    RASA1 mutations have been shown to cause capillary malformation-arteriovenous malformation (CM-AVM). We describe a patient with CM-AVM and a fetus who presented with non-immune hydrops fetalis during the pregnancy. Sequencing revealed a novel RASA1 mutation in the RASGAP domain that results in a loss of function of p120-RasGap. This report expands our current genetic and clinical understanding of CM-AVM in pregnancy.
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