Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
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| Title: | Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. |
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| Authors: | Di Donato N; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50139 Florence, Italy., Billington CJ; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN 55454, USA., Barkovich AJ; Departments of Radiology and Biomedical Imaging, Neurology, Pediatrics, and Neurosurgery, University of California, San Francisco, San Francisco, CA 94143, USA., Dinkel P; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany., Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Heide M; Max Planck Institute of Molecular Cell Biology and Genetics, 01307 Dresden, Germany.; German Primate Center, Leibniz Institute for Primate Research, 37077 Goettingen, Germany., Gershon ES; Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA.; Department of Psychiatry and Behavioral Neuroscience, The University of Chicago, Chicago, IL 60637, USA., Gertler TS; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Hopkin RJ; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Department of Pediatrics, Division of Human Genetics, Cincinnati, OH 45229, USA., Jacob S; Department of Psychiatry, University of Minnesota, Minneapolis, MN 55454, USA., Keedy SK; Department of Psychiatry and Behavioral Neuroscience, The University of Chicago, Chicago, IL 60637, USA., Kooshavar D; Bruce Lefory Centre, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne 3052, Australia., Lockhart PJ; Bruce Lefory Centre, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne 3052, Australia., Lohmann DR; Institut fur Humangenetik, Universitatsklinikum Essen, 45147 Essen, Germany., Mahmoud IG; Pediatric Neurology Department, Cairo University Children's Hospital, Cairo, Egypt., Parrini E; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50139 Florence, Italy., Schrock E; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany., Severi G; Medical Genetics Unit, S. Orsola-Malpighi Hospital, 40138 Bologna, Italy., Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA., Webster RI; T. Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney 2145, Australia., Willis MJH; Uniformed Services University School of Medicine and Naval Medical Center, Department of Pediatrics, San Diego, CA 92134, USA., Zaki MS; Pediatric Neurology Department, Cairo University Children's Hospital, Cairo, Egypt.; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo Governorate 12622, Egypt., Gleeson JG; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Leventer RJ; Department of Neurology, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne 3052, Australia., Dobyns WB; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN 55454, USA. |
| Source: | Brain : a journal of neurology [Brain] 2022 Sep 14; Vol. 145 (9), pp. 3274-3287. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1460-2156 |
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| DOI: | 10.1093/brain/awac164 |
