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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.
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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  Data: Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.
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  Data: <searchLink fieldCode="AU" term="%22Schönewolf-Greulich+B%22">Schönewolf-Greulich B</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bisgaard+AM%22">Bisgaard AM</searchLink>; Department of Paediatrics and Adolescent Medicine, Center for Rett Syndrome, Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Dunø+M%22">Dunø M</searchLink>; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Jespersgaard+C%22">Jespersgaard C</searchLink>; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Rokkjaer+M%22">Rokkjaer M</searchLink>; Department of Pediatrics, Kolding Hospital, Kolding, Denmark.<br /><searchLink fieldCode="AU" term="%22Hansen+LK%22">Hansen LK</searchLink>; Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Tsoutsou+E%22">Tsoutsou E</searchLink>; Medical Genetics Department, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Sofokleous+C%22">Sofokleous C</searchLink>; Medical Genetics Department, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Topcu+M%22">Topcu M</searchLink>; Department of Medical Genetics, Hacettepe Medical School, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Kaur+S%22">Kaur S</searchLink>; Department of Paediatrics, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Van+Bergen+NJ%22">Van Bergen NJ</searchLink>; Department of Paediatrics, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Brøndum-Nielsen+K%22">Brøndum-Nielsen K</searchLink>; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Larsen+MJ%22">Larsen MJ</searchLink>; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Sørensen+KP%22">Sørensen KP</searchLink>; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Christodoulou+J%22">Christodoulou J</searchLink>; Department of Paediatrics, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Fagerberg+CR%22">Fagerberg CR</searchLink>; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Tümer+Z%22">Tümer Z</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2019 Mar; Vol. 95 (3), pp. 403-408. <i>Date of Electronic Publication: </i>2018 Dec 07.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
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