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Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Klaassens, Merel; Morrogh, Deborah; Rosser, Elisabeth M; Jaffer, Fatima; Vreeburg, Maaike; Bok, Levinus A; Segboer, Tim; van Belzen, Martine; Quinlivan, Ros M; Kumar, Ajith; Hurst, Jane A; Scott, Richard H.
Afiliação
  • Klaassens M; 1] Department of Paediatrics, Maastricht University Medical Center, Maastricht, The Netherlands [2] Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands [3] North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust,
  • Morrogh D; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.
  • Rosser EM; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.
  • Jaffer F; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK.
  • Vreeburg M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Bok LA; Department of Paediatrics, Maxima Medical Centre, Belhaven, The Netherlands.
  • Segboer T; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
  • van Belzen M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
  • Quinlivan RM; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK.
  • Kumar A; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.
  • Hurst JA; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.
  • Scott RH; 1] North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK [2] Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.
Eur J Hum Genet ; 23(5): 610-5, 2015 May.
Article em En | MEDLINE | ID: mdl-25118028
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Deleção de Sequência / Fatores de Transcrição NFI / Estudos de Associação Genética / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de publicação: Reino Unido
Texto completo
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Imprimir
XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Deleção de Sequência / Fatores de Transcrição NFI / Estudos de Associação Genética / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de publicação: Reino Unido