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GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses.
Polubothu, Satyamaanasa; Al-Olabi, Lara; Carmen Del Boente, Maria; Chacko, Alisha; Eleftheriou, Georgios; Glover, Mary; Jiménez-Gallo, David; Jones, Elizabeth A; Lomas, Debra; Fölster-Holst, Regina; Syed, Samira; Tasani, Monika; Thomas, Anna; Tisdall, Martin; Torrelo, Antonio; Aylett, Sarah; Kinsler, Veronica A.
Afiliación
  • Polubothu S; Great Ormond St Hospital for Children NHS Foundation Trust, and UCL GOS Institute of Child Health, London, United Kingdom; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom.
  • Al-Olabi L; Great Ormond St Hospital for Children NHS Foundation Trust, and UCL GOS Institute of Child Health, London, United Kingdom.
  • Carmen Del Boente M; Dermatology, Hospital del Niño Jesús, San Miguel de Tucumán, Argentina.
  • Chacko A; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom.
  • Eleftheriou G; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom.
  • Glover M; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom.
  • Jiménez-Gallo D; Dermatology, Puerta del Mar University Hospital, Cádiz, Spain.
  • Jones EA; Manchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University, NHS F
  • Lomas D; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom.
  • Fölster-Holst R; Campus Kiel, Dermatologie, Venerologie und Allergologie, Universitätsklinikum Schleswig-Holstein, Kiel, Germany.
  • Syed S; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom.
  • Tasani M; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom.
  • Thomas A; Great Ormond St Hospital for Children NHS Foundation Trust, and UCL GOS Institute of Child Health, London, United Kingdom.
  • Tisdall M; Department of Neurosurgery, Great Ormond St Hospital for Children, NHS Foundation Trust, London, United Kingdom.
  • Torrelo A; Dermatology, Hospital del Niño Jesús, Madrid, Spain.
  • Aylett S; Pediatric Neurology, Great Ormond St Hospital for Children, NHS Foundation Trust, London, United Kingdom.
  • Kinsler VA; Great Ormond St Hospital for Children NHS Foundation Trust, and UCL GOS Institute of Child Health, London, United Kingdom; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom. Electronic address: v.kinsler@ucl.ac.uk.
J Invest Dermatol ; 140(5): 1110-1113, 2020 05.
Article en En | MEDLINE | ID: mdl-31838126
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Piel / Síndrome de Sturge-Weber / Subunidades alfa de la Proteína de Unión al GTP / Dominios Proteicos / Genotipo / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Invest Dermatol Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Piel / Síndrome de Sturge-Weber / Subunidades alfa de la Proteína de Unión al GTP / Dominios Proteicos / Genotipo / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Invest Dermatol Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido