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

Volumn 167, Issue 10, 2015, Pages 2440-2443

  Overcash, Rachael T ^a   Gibu, Christopher K ^b   Jones, Marilyn C ^b   Ramos, Gladys A ^a   Andreasen, Tara S ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

Arteriovenous malformation; Capillary malformation; CM AVM; Etiology; Pregnancy; RASA1; RasGAP

Indexed keywords

BETAMETHASONE; DOPAMINE; HEMOGLOBIN; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; RASA1 PROTEIN, HUMAN;

ADULT; AMINO ACID SUBSTITUTION; ANASARCA; APGAR SCORE; ARTERIOVENOUS MALFORMATION; ARTICLE; ASCITES; ASPIRATION PNEUMONIA; BRAIN HEMORRHAGE; BRAIN SURGERY; CAPILLARY MALFORMATION ARTERIOVENOUS MALFORMATION; CASE REPORT; CESAREAN SECTION; CHEST TUBE; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; DEEP VEIN THROMBOSIS; DETERIORATION; DNA EXTRACTION; DOPPLER ECHOGRAPHY; ECHOCARDIOGRAPHY; FEMALE; FETUS HYDROPS; FETUS LUNG MATURITY; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HEART INFARCTION; HEMOGLOBIN BLOOD LEVEL; HUMAN; HYDRAMNIOS; HYPOTENSION; INFANT; LUNG EDEMA; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; MIDDLE CEREBRAL ARTERY; PATENT DUCTUS ARTERIOSUS; PLACENTA DISORDER; PLACENTOMEGALY; PLEURA EFFUSION; POSITIVE END EXPIRATORY PRESSURE; PREMATURE FETUS MEMBRANE RUPTURE; PRENATAL PERIOD; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RASA1 GENE; SEQUENCE ANALYSIS; SOLUTIO PLACENTAE; THORAX RADIOGRAPHY; TREATMENT RESPONSE; VAGINA BLEEDING; CAPILLARY; CONGENITAL MALFORMATION; DNA MUTATIONAL ANALYSIS; FETUS; GENE EXPRESSION; GENETICS; MUTATION; NEVUS FLAMMEUS; NEWBORN; PATHOLOGY; PREGNANCY; PROTEIN TERTIARY STRUCTURE;

ADULT; ARTERIOVENOUS MALFORMATIONS; CAPILLARIES; DNA MUTATIONAL ANALYSIS; FEMALE; FETUS; GENE EXPRESSION; HUMANS; HYDROPS FETALIS; INFANT, NEWBORN; MALE; MUTATION; P120 GTPASE ACTIVATING PROTEIN; PORT-WINE STAIN; PREGNANCY; PROTEIN STRUCTURE, TERTIARY;

EID: 84941260370     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37203     Document Type: Article

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