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RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation.
Revencu, Nicole; Fastre, Elodie; Ravoet, Marie; Helaers, Raphaël; Brouillard, Pascal; Bisdorff-Bresson, Annouk; Chung, Clara W T; Gerard, Marion; Dvorakova, Veronika; Irvine, Alan D; Boon, Laurence M; Vikkula, Miikka.
Afiliação
  • Revencu N; Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium nicole.revencu@uclouvain.be.
  • Fastre E; Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium; VASCERN VASCA European Reference Center.
  • Ravoet M; Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
  • Helaers R; Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
  • Brouillard P; Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.
  • Bisdorff-Bresson A; Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.
  • Chung CWT; Neuroradiology, Center for arteriovenous malformations in children and adults, Hopital Lariboisiere, Paris, France.
  • Gerard M; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia.
  • Dvorakova V; Service de Génétique Médicale, Centre Hospitalier Universitaire de Caen, Caen, France.
  • Irvine AD; Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
  • Boon LM; Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
  • Vikkula M; Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.
J Med Genet ; 57(1): 48-52, 2020 01.
Article em En | MEDLINE | ID: mdl-31300548
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Malformações Arteriovenosas / Capilares / Mancha Vinho do Porto / Proteína p120 Ativadora de GTPase / Mosaicismo / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Bélgica
Texto completo
Imprimir
XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Malformações Arteriovenosas / Capilares / Mancha Vinho do Porto / Proteína p120 Ativadora de GTPase / Mosaicismo / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Bélgica