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SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.
Fischer-Zirnsak, Björn; Koenig, Rainer; Alisch, Franz; Günes, Nilay; Hausser, Ingrid; Saha, Namrata; Beck-Woedl, Stefanie; Haack, Tobias B; Thiel, Christian; Kamrath, Clemens; Tüysüz, Beyhan; Henning, Stephan; Mundlos, Stefan; Hoffmann, Katrin; Horn, Denise; Kornak, Uwe.
Afiliação
  • Fischer-Zirnsak B; Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany. bjoern.fischer@charite.de.
  • Koenig R; Max-Planck-Institut fuer Molekulare Genetik, FG Development & Disease, Berlin, Germany. bjoern.fischer@charite.de.
  • Alisch F; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, Berlin, Germany. bjoern.fischer@charite.de.
  • Günes N; Department of Human Genetics, University of Frankfurt, Frankfurt, Germany.
  • Hausser I; Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
  • Saha N; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical Faculty, Istanbul, Turkey.
  • Beck-Woedl S; Institute of Pathology, Heidelberg University Hopsital, Heidelberg, Germany.
  • Haack TB; Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
  • Thiel C; Max-Planck-Institut fuer Molekulare Genetik, FG Development & Disease, Berlin, Germany.
  • Kamrath C; Berlin-Brandenburg School for Regenerative Therapies, Charité-Universitaetsmedizin Berlin, Berlin, Germany.
  • Tüysüz B; Max Planck International Research Network on Aging, Rostock, Germany.
  • Henning S; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
  • Mundlos S; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
  • Hoffmann K; Center for Child and Adolescent Medicine, Department 1, University Hospital Heidelberg, Heidelberg, Germany.
  • Horn D; Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany.
  • Kornak U; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical Faculty, Istanbul, Turkey.
J Hum Genet ; 64(7): 609-616, 2019 Jul.
Article em En | MEDLINE | ID: mdl-31015584
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Anomalia de Pelger-Huët / Doenças do Nervo Óptico / Transtornos do Crescimento / Proteínas de Neoplasias Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Humans / Infant / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Anomalia de Pelger-Huët / Doenças do Nervo Óptico / Transtornos do Crescimento / Proteínas de Neoplasias Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Humans / Infant / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha