Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.
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| Title: | Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements. |
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| Authors: | Schönewolf-Greulich B; Department of Paediatrics and Adolescent Medicine, Center for Rett Syndrome, Rigshospitalet, Copenhagen, Denmark.; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Bisgaard AM; Department of Paediatrics and Adolescent Medicine, Center for Rett Syndrome, Rigshospitalet, Copenhagen, Denmark., Dunø M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Jespersgaard C; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Rokkjaer M; Department of Pediatrics, Kolding Hospital, Kolding, Denmark., Hansen LK; Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark., Tsoutsou E; Medical Genetics Department, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece., Sofokleous C; Medical Genetics Department, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece., Topcu M; Department of Medical Genetics, Hacettepe Medical School, Ankara, Turkey., Kaur S; Department of Paediatrics, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Australia., Van Bergen NJ; Department of Paediatrics, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Australia., Brøndum-Nielsen K; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Sørensen KP; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Christodoulou J; Department of Paediatrics, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Australia., Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. |
| Source: | Clinical genetics [Clin Genet] 2019 Mar; Vol. 95 (3), pp. 403-408. Date of Electronic Publication: 2018 Dec 07. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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