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Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation.
Jordan, Maud; Carmignac, Virginie; Sorlin, Arthur; Kuentz, Paul; Albuisson, Juliette; Borradori, Luca; Bourrat, Emmanuelle; Boute, Odile; Bukvic, Nenad; Bursztejn, Anne-Claire; Chiaverini, Christine; Delobel, Bruno; Fournet, Marine; Martel, Jehanne; Goldenberg, Alice; Hadj-Rabia, Smaïl; Mahé, Antoine; Maruani, Annabel; Mazereeuw, Juliette; Mignot, Cyril; Morice-Picard, Fanny; Moutard, Marie-Laure; Petit, Florence; Pasteur, Justine; Phan, Alice; Whalen, Sandra; Willems, Marjolaine; Philippe, Christophe; Vabres, Pierre.
Afiliação
  • Jordan M; Dermatology Department, Dijon Burgundy University Hospital, Dijon, France.
  • Carmignac V; INSERM UMR1231, Team Genetics of Development Anomalies, Bourgogne-Franche-Comté University, Dijon, France; Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC)-Mosaic, Burgundy University Hospital, Dijon, France. Electronic address: virginie.carmignac@u-bourgogne.fr.
  • Sorlin A; INSERM UMR1231, Team Genetics of Development Anomalies, Bourgogne-Franche-Comté University, Dijon, France.
  • Kuentz P; INSERM UMR1231, Team Genetics of Development Anomalies, Bourgogne-Franche-Comté University, Dijon, France.
  • Albuisson J; Medical Genetics Department, Gearges Pompidou European Hospital, Paris, France.
  • Borradori L; Department of Dermatology, Inselspital, Bern University Hospital, Bern, Switzerland.
  • Bourrat E; Dermatology Department, St-Louis Lariboisière University Hospital, Paris, France.
  • Boute O; Guy Fontaine-Genetics Clinics, CLAD Reference Center, Lille University Hospital, Lille, France.
  • Bukvic N; University Hospital Bari-Policlinics, Medical Genetics Unit, Bari, Italy.
  • Bursztejn AC; Dermatology Department, CHRU-Nancy, Vandœuvre-lès-Nancy, France.
  • Chiaverini C; Dermatology Department, CHU-Nice, Nice, France.
  • Delobel B; Medical Genetics and Cytogenetics Department, "Institut Catholique de Lille" Hospital, Lille, France.
  • Fournet M; Dermatology Department, CHU-Bordeaux, Bordeaux, France.
  • Martel J; Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC)-Mosaic, Burgundy University Hospital, Dijon, France.
  • Goldenberg A; Genetic department, CHU-Rouen, Rouen, France.
  • Hadj-Rabia S; Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC) and Department of Dermatology, Necker-Enfants Malades University Hospital, APHP, Paris, France; Paris-Descartes University, Imagine Institute, Paris, France.
  • Mahé A; Dermatology Department, Colmar Hospital, Colmar, France.
  • Maruani A; Dermatology Department, Trousseau-Chambray University Hospital, Tours, France.
  • Mazereeuw J; Dermatology Department, CHU-Toulouse, Toulouse, France.
  • Mignot C; Clinical and Medical Genetic Department, Armand Trousseau Hospital, APHP, Paris, France.
  • Morice-Picard F; Medical Genetic Department, Bordeaux University Hospital, Bordeaux, France.
  • Moutard ML; Neuropediatric Department, Neuropediatry and Development Pathologies Unit, Paris-Est University Hospital, Armand Trousseau Hospital, Paris, France.
  • Petit F; Guy Fontaine-Genetics Clinics, CLAD Reference Center, Lille University Hospital, Lille, France.
  • Pasteur J; Dermatology Department, Dijon Burgundy University Hospital, Dijon, France.
  • Phan A; Nephrology-Rheumatology-Dermatology Department, HCL-Femme-mère-enfant Hospital, Bron, France.
  • Whalen S; Clinical and Medical Genetic Department, Armand Trousseau Hospital, APHP, Paris, France.
  • Willems M; Medical Genetic Department, CHU-Montpellier, Montpellier, France.
  • Philippe C; INSERM UMR1231, Team Genetics of Development Anomalies, Bourgogne-Franche-Comté University, Dijon, France.
  • Vabres P; Dermatology Department, Dijon Burgundy University Hospital, Dijon, France; INSERM UMR1231, Team Genetics of Development Anomalies, Bourgogne-Franche-Comté University, Dijon, France; Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC)-Mosaic, Burgundy University Hospital, Dijon, France
J Invest Dermatol ; 140(5): 1106-1110.e2, 2020 05.
Article em En | MEDLINE | ID: mdl-31726051
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pele / Neoplasias Vasculares / Subunidades alfa de Proteínas de Ligação ao GTP / Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP / Malformações Vasculares Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pele / Neoplasias Vasculares / Subunidades alfa de Proteínas de Ligação ao GTP / Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP / Malformações Vasculares Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article