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FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.
Flöttmann, Ricarda; Knaus, Alexej; Zemojtel, Tomasz; Robinson, Peter N; Mundlos, Stefan; Horn, Denise; Spielmann, Malte.
Afiliação
  • Flöttmann R; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Knaus A; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Zemojtel T; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Robinson PN; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany.
  • Mundlos S; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany.
  • Horn D; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Spielmann M; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany. Electronic address: malte.spielmann@charite.de.
Eur J Med Genet ; 58(8): 376-80, 2015 Aug.
Article em En | MEDLINE | ID: mdl-26096994
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acrocefalossindactilia / Mutação de Sentido Incorreto / Receptor Tipo 2 de Fator de Crescimento de Fibroblastos Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acrocefalossindactilia / Mutação de Sentido Incorreto / Receptor Tipo 2 de Fator de Crescimento de Fibroblastos Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article