RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome

American Journal of Medical Genetics, Part A

Volumn 170, Issue 6, 2016, Pages 1450-1454

  Macmurdo, Colleen F ^a   Wooderchak Donahue, Whitney ^b,c   Bayrak Toydemir, Pinar ^b,c   Le, Jenny ^b   Wallenstein, Matthew B ^a   Milla, Carlos ^a   Teng, Joyce M C ^a   Bernstein, Jonathan A ^a   Stevenson, David A ^a  

^a STANFORD UNIVERSITY   (United States)

^b ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Arteriovenous malformation; Capillary malformation; RASA1; Somatic mutation

Indexed keywords

ARTERIOVENOUS MALFORMATION; ARTICLE; CAPILLARY MALFORMATION; CARDIOMEGALY; CARDIOMYOPATHY; CASE REPORT; CESAREAN SECTION; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL BLOOD VESSEL MALFORMATION; DNA EXTRACTION; DNA SEQUENCE; EXOME; FAMILY HISTORY; FEMALE; GENE; GENE IDENTIFICATION; HUMAN; HUMAN TISSUE; HYDRAMNIOS; MUTATIONAL ANALYSIS; NEWBORN; NEXT GENERATION SEQUENCING; PERICARDIAL EFFUSION; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RASA1 GENE; SKIN BIOPSY; SOMATIC MUTATION; ABNORMALITIES; ALLELE; AMINO ACID SUBSTITUTION; ARTERIOVENOUS MALFORMATIONS; CAPILLARY; GENE EXPRESSION; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; GERMLINE MUTATION; HIGH THROUGHPUT SEQUENCING; INFANT; MUTATION; PHENOTYPE; PORT-WINE STAIN;

GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; RASA1 PROTEIN, HUMAN;

ALLELES; AMINO ACID SUBSTITUTION; ARTERIOVENOUS MALFORMATIONS; CAPILLARIES; COMPARATIVE GENOMIC HYBRIDIZATION; EXOME; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; GENOTYPE; GERM-LINE MUTATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MUTATION; P120 GTPASE ACTIVATING PROTEIN; PHENOTYPE; PORT-WINE STAIN;

EID: 84960436588     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37613     Document Type: Article

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