Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene

European Journal of Medical Genetics

Volumn 55, Issue 3, 2012, Pages 191-195

  de Wijn, Robert S ^a   Oduber, Charlène E U ^b   Breugem, Corstiaan C ^c   Alders, Marielle ^a   Hennekam, Raoul C M ^a,d   van der Horst, Chantal M A M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Capillary malformation; CM AVM; Etiology; Phenotype; RASA1; RasGAP

Indexed keywords

RAS P21 PROTEIN ACTIVATOR 1; RAS PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CAPILLARY MALFORMATION; CHROMOSOME 5Q; CLINICAL ARTICLE; CONGENITAL BLOOD VESSEL MALFORMATION; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEMANGIOMA; HUMAN; HUMAN CELL; HYPERHIDROSIS; LEG EDEMA; LIMB MALFORMATION; MALE; PHENOTYPE; SKIN REDNESS; VARICOSIS;

ADOLESCENT; ADULT; ARTERIOVENOUS MALFORMATIONS; CAPILLARIES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; P120 GTPASE ACTIVATING PROTEIN; PHENOTYPE; SKIN; YOUNG ADULT;

EID: 84858866422     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.01.009     Document Type: Article

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