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Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
Piard, Juliette; Lespinasse, James; Vlckova, Marketa; Mensah, Martin A; Iurian, Sorin; Simandlova, Martina; Malikova, Marcela; Bartsch, Oliver; Rossi, Massimiliano; Lenoir, Marion; Nugues, Frédérique; Mundlos, Stefan; Kornak, Uwe; Stanier, Philip; Sousa, Sérgio B; Van Maldergem, Lionel.
Affiliation
  • Piard J; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.
  • Lespinasse J; Service de Cytogénétique, Centre Hospitalier de Chambéry-Hôtel Dieu, Chambéry, France.
  • Vlckova M; Department of Biology and Medical Genetics, Motol Hospital, Charles University, Prague, Czech Republic.
  • Mensah MA; 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.
  • Iurian S; Faculty of Medicine, Lucian Blaga University Sibiu, Sibiu, Romania.
  • Simandlova M; Department of Biology and Medical Genetics, Motol Hospital, Charles University, Prague, Czech Republic.
  • Malikova M; Department of Biology and Medical Genetics, Motol Hospital, Charles University, Prague, Czech Republic.
  • Bartsch O; Institute of Human Genetics, Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.
  • Rossi M; Service de Génétique, Hospices Civils de Lyon, Centre de Recherche en Neurosciences de Lyon, Bron, France.
  • Lenoir M; Service de Radiologie Pédiatrique et Imagerie de la Femme, Centre Hospitalier Régional Universitaire de Besançon, Besançon, France.
  • Nugues F; Service d'Imagerie Pédiatrique, Centre Hospitalier Universitaire Grenoble Alpes, Grenoble, France.
  • Mundlos S; 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.
  • Kornak U; 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.
  • Stanier P; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, UK.
  • Sousa SB; Serviço de Genética Medica, Hospital Pediatrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.
Am J Med Genet A ; 176(3): 668-675, 2018 03.
Article in En | MEDLINE | ID: mdl-29341480
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Hyperostosis / Nitrogenous Group Transferases / Cutis Laxa / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: France Country of publication: United States
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Hyperostosis / Nitrogenous Group Transferases / Cutis Laxa / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: France Country of publication: United States