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Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.
Thomas, Anna C; Zeng, Zhiqiang; Rivière, Jean-Baptiste; O'Shaughnessy, Ryan; Al-Olabi, Lara; St-Onge, Judith; Atherton, David J; Aubert, Hélène; Bagazgoitia, Lorea; Barbarot, Sébastien; Bourrat, Emmanuelle; Chiaverini, Christine; Chong, W Kling; Duffourd, Yannis; Glover, Mary; Groesser, Leopold; Hadj-Rabia, Smail; Hamm, Henning; Happle, Rudolf; Mushtaq, Imran; Lacour, Jean-Philippe; Waelchli, Regula; Wobser, Marion; Vabres, Pierre; Patton, E Elizabeth; Kinsler, Veronica A.
Afiliación
  • Thomas AC; Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
  • Zeng Z; MRC Institute of Genetics and Molecular Medicine, MRC Human Genetics Unit & Edinburgh Cancer Research UK Centre, Edinburgh, UK.
  • Rivière JB; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, University of Burgundy, Dijon, France.
  • O'Shaughnessy R; Livingstone Skin Research Unit, UCL Institute of Child Health, London, UK.
  • Al-Olabi L; Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
  • St-Onge J; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, University of Burgundy, Dijon, France.
  • Atherton DJ; Paediatric Dermatology, Great Ormond Street Hospital for Children, London, UK.
  • Aubert H; Department of Dermatology, Nantes University Hospital, Nantes, France.
  • Bagazgoitia L; Dermatology, Hospital Universitario Ramón y Cajal, Madrid, Spain.
  • Barbarot S; Department of Dermatology, Nantes University Hospital, Nantes, France.
  • Bourrat E; Dermatology, Saint-Louis Hospital, Paris, France; General Paediatrics, Robert-Debré Hospital, Paris, France.
  • Chiaverini C; Dermatology, University Hospital of Nice, Nice, France.
  • Chong WK; Neuroradiology, Great Ormond Street Hospital for Children, London, UK.
  • Duffourd Y; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, University of Burgundy, Dijon, France.
  • Glover M; Paediatric Dermatology, Great Ormond Street Hospital for Children, London, UK.
  • Groesser L; Dermatology, Regensburg University Clinic, Regensburg, Germany.
  • Hadj-Rabia S; Paediatric Dermatology, Necker Enfants-Malades Hospital, Paris, France.
  • Hamm H; Dermatology, University Hospital Wuerzburg, Wuerzburg, Germany.
  • Happle R; Dermatology, Freiburg University Medical Center, University of Freiburg, Freiburg, Germany.
  • Mushtaq I; Paediatric Urology, Great Ormond Street Hospital for Children, London, UK.
  • Lacour JP; Dermatology, University Hospital of Nice, Nice, France.
  • Waelchli R; Paediatric Dermatology, Great Ormond Street Hospital for Children, London, UK.
  • Wobser M; Dermatology, University Hospital Wuerzburg, Wuerzburg, Germany.
  • Vabres P; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, University of Burgundy, Dijon, France; Dermatology, Dijon University Hospital, Dijon, France.
  • Patton EE; MRC Institute of Genetics and Molecular Medicine, MRC Human Genetics Unit & Edinburgh Cancer Research UK Centre, Edinburgh, UK. Electronic address: e.patton@igmm.ed.ac.uk.
  • Kinsler VA; Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK; Paediatric Dermatology, Great Ormond Street Hospital for Children, London, UK. Electronic address: v.kinsler@ucl.ac.uk.
J Invest Dermatol ; 136(4): 770-778, 2016 Apr.
Article en En | MEDLINE | ID: mdl-26778290
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades de la Piel / Síndromes Neurocutáneos / Subunidades alfa de la Proteína de Unión al GTP / Mancha Mongólica / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans / Infant Idioma: En Revista: J Invest Dermatol Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades de la Piel / Síndromes Neurocutáneos / Subunidades alfa de la Proteína de Unión al GTP / Mancha Mongólica / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans / Infant Idioma: En Revista: J Invest Dermatol Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido