A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy

American Journal of Medical Genetics, Part A

Volumn 161, Issue 7, 2013, Pages 1690-1694

  Durrington, Hannah J ^a   Firth, Helen V ^b   Patient, Charlotte ^c   Belham, Mark ^b   Jayne, David ^b   Burrows, Nigel ^b   Morrell, Nicholas W ^a   Chilvers, Edwin R ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c Rosie Maternity Hospital   (United Kingdom)

Author keywords

Capillary malformation arteriovenous malformation; RASA1 frameshift mutation

Indexed keywords

ALBUMIN; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; HEMOGLOBIN;

ADULT; ANEMIA; ANKLE EDEMA; ARTERIAL GAS; ARTERIOVENOUS MALFORMATION; ARTICLE; CAPILLARY MALFORMATION ARTERIOVENOUS MALFORMATION; CASE REPORT; CHORION VILLUS SAMPLING; DOPPLER ECHOCARDIOGRAPHY; DYSPNEA; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; EPISTAXIS; FACE EDEMA; FEMALE; FEVER; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HEART FAILURE; HOSPITAL READMISSION; HUMAN; HYPERVOLEMIA; LEG EDEMA; LUNG CAPILLARY; MACROGLOSSIA; MICROANGIOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; OXYGEN SATURATION; PREGNANCY; PRIORITY JOURNAL; PROTEIN DOMAIN; RASA1 GENE; RENDU OSLER WEBER DISEASE; SINUS TACHYCARDIA; TACHYPNEA; THROMBOCYTE COUNT; VARICOSIS; WEIGHT REDUCTION;

ADULT; ARTERIOVENOUS MALFORMATIONS; CAPILLARIES; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; P120 GTPASE ACTIVATING PROTEIN; PEDIGREE; PREGNANCY; PREGNANCY COMPLICATIONS, CARDIOVASCULAR;

EID: 84879462911     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35935     Document Type: Article

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