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Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <i>MAGEL2</i>-related disorders.

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第一作者: Rebekah,Jobling
第一单位: Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.;Division of Clinical Genetics and Metabolism, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
作者单位: Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.;Division of Clinical Genetics and Metabolism, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada. [1] Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.;Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada. [2] Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.;The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada. [3] Division of Clinical Genetics and Metabolism, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada. [4] Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada. [5] Regenoron, New York City, New York, USA. [6] CHU Sainte-Justine, Montréal, Quebec, Canada.;Department of Pediatrics, Université de Montréal, Montréal, Quebec, Canada. [7] CHU Sainte-Justine, Montréal, Quebec, Canada.;Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.;ICVS/3B's - PT Government Associate Laboratory, Guimarães, Portugal. [8] CHU Sainte-Justine, Montréal, Quebec, Canada. [9] Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada. [10] Division of Clinical Pathology, McMaster University, Hamilton, Ontario, Canada. [11] The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.;Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. [12] The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.;Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.;Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada. [13] The Centre for Biomedical Research, University of Victoria, Victoria, British Columbia, Canada. [14] Division of Clinical Genetics and Metabolism, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.;The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, New York City, New York, USA. [15]
DOI 10.1136/jmedgenet-2017-105222
PMID 29599419
发布时间 2022-12-07
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Journal of medical genetics

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