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Mutations in ZBTB20 cause Primrose syndrome.
Cordeddu, Viviana; Redeker, Bert; Stellacci, Emilia; Jongejan, Aldo; Fragale, Alessandra; Bradley, Ted E J; Anselmi, Massimiliano; Ciolfi, Andrea; Cecchetti, Serena; Muto, Valentina; Bernardini, Laura; Azage, Meron; Carvalho, Daniel R; Espay, Alberto J; Male, Alison; Molin, Anna-Maja; Posmyk, Renata; Battisti, Carla; Casertano, Alberto; Melis, Daniela; van Kampen, Antoine; Baas, Frank; Mannens, Marcel M; Bocchinfuso, Gianfranco; Stella, Lorenzo; Tartaglia, Marco; Hennekam, Raoul C.
Afiliación
  • Cordeddu V; 1] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. [2].
  • Redeker B; 1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2].
  • Stellacci E; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
  • Jongejan A; Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
  • Fragale A; Dipartimento di Malattie Infettive, Parassitarie e Immunomediate, Istituto Superiore di Sanità, Rome, Italy.
  • Bradley TE; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
  • Anselmi M; Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome, Italy.
  • Ciolfi A; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
  • Cecchetti S; Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Rome, Italy.
  • Muto V; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
  • Bernardini L; Laboratorio Mendel, Fondazione Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Azage M; Department of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
  • Carvalho DR; Medical Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.
  • Espay AJ; Department of Neurology, University of Cincinnati, Gardner Family Center for Parkinson's Disease and Movement Disorders, Cincinnati, Ohio, USA.
  • Male A; Clinical Genetics Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, UK.
  • Molin AM; Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
  • Posmyk R; Podlaskie Center of Clinical Genetics, Bialystok, Poland.
  • Battisti C; Dipartimento di Scienze Neurologiche, Neurochirurgiche e del Comportamento, Università degli Studi di Siena, Policlinico Le Scotte, Siena, Italy.
  • Casertano A; Dipartimento di Pediatria, Facoltà di Medicina e Chirurgia, Università 'Federico II', Naples, Italy.
  • Melis D; Dipartimento di Pediatria, Facoltà di Medicina e Chirurgia, Università 'Federico II', Naples, Italy.
  • van Kampen A; Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
  • Baas F; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
  • Mannens MM; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
  • Bocchinfuso G; Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome, Italy.
  • Stella L; Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome, Italy.
  • Tartaglia M; 1] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. [2].
  • Hennekam RC; 1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2] Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [3].
Nat Genet ; 46(8): 815-7, 2014 Aug.
Article en En | MEDLINE | ID: mdl-25017102
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Factores de Transcripción / Anomalías Múltiples / Calcinosis / Atrofia Muscular / Mutación Missense / Enfermedades del Oído / Discapacidad Intelectual / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Factores de Transcripción / Anomalías Múltiples / Calcinosis / Atrofia Muscular / Mutación Missense / Enfermedades del Oído / Discapacidad Intelectual / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article