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Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.
Shirley, Matthew D; Tang, Hao; Gallione, Carol J; Baugher, Joseph D; Frelin, Laurence P; Cohen, Bernard; North, Paula E; Marchuk, Douglas A; Comi, Anne M; Pevsner, Jonathan.
Affiliation
  • Shirley MD; Biochemistry, Cellular and Molecular Biology Program, Johns Hopkins School of Medicine, and Department of Neurology and Developmental Medicine, Hugo W. Moser Research Institute at Kennedy Krieger, Baltimore, MD 21205, USA.
N Engl J Med ; 368(21): 1971-9, 2013 May 23.
Article in En | MEDLINE | ID: mdl-23656586

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sturge-Weber Syndrome / Port-Wine Stain / GTP-Binding Protein alpha Subunits / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male / Newborn Language: En Journal: N Engl J Med Year: 2013 Type: Article Affiliation country: United States

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sturge-Weber Syndrome / Port-Wine Stain / GTP-Binding Protein alpha Subunits / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male / Newborn Language: En Journal: N Engl J Med Year: 2013 Type: Article Affiliation country: United States