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Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.
Schönewolf-Greulich, Bitten; Bisgaard, Anne-Marie; Dunø, Morten; Jespersgaard, Cathrine; Rokkjaer, Mette; Hansen, Lars K; Tsoutsou, Eirini; Sofokleous, Christalena; Topcu, Meral; Kaur, Simran; Van Bergen, Nicole J; Brøndum-Nielsen, Karen; Larsen, Martin J; Sørensen, Kristina P; Christodoulou, John; Fagerberg, Christina R; Tümer, Zeynep.
Afiliación
  • Schönewolf-Greulich B; Department of Paediatrics and Adolescent Medicine, Center for Rett Syndrome, Rigshospitalet, Copenhagen, Denmark.
  • Bisgaard AM; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Dunø M; Department of Paediatrics and Adolescent Medicine, Center for Rett Syndrome, Rigshospitalet, Copenhagen, Denmark.
  • Jespersgaard C; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Rokkjaer M; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Hansen LK; Department of Pediatrics, Kolding Hospital, Kolding, Denmark.
  • Tsoutsou E; Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
  • Sofokleous C; Medical Genetics Department, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece.
  • Topcu M; Medical Genetics Department, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece.
  • Kaur S; Department of Medical Genetics, Hacettepe Medical School, Ankara, Turkey.
  • Van Bergen NJ; Department of Paediatrics, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Australia.
  • Brøndum-Nielsen K; Department of Paediatrics, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Australia.
  • Larsen MJ; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Sørensen KP; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Christodoulou J; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Fagerberg CR; Department of Paediatrics, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Australia.
  • Tümer Z; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Clin Genet ; 95(3): 403-408, 2019 03.
Article en En | MEDLINE | ID: mdl-30417326
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Síndrome de Rett / Proteína 2 de Unión a Metil-CpG / Mosaicismo / Mutación Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Clin Genet Año: 2019 Tipo del documento: Article País de afiliación: Dinamarca Pais de publicación: Dinamarca
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Síndrome de Rett / Proteína 2 de Unión a Metil-CpG / Mosaicismo / Mutación Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Clin Genet Año: 2019 Tipo del documento: Article País de afiliación: Dinamarca Pais de publicación: Dinamarca