Article
Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis.
American journal of medical genetics. Part A - 1 Oct 2015
Overcash Rachael T, Gibu Christopher K, Jones Marilyn C, Ramos Gladys A, Andreasen Tara S
Abstract excerpt
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.
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.