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Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.
Jobling, Rebekah; Stavropoulos, Dimitri James; Marshall, Christian R; Cytrynbaum, Cheryl; Axford, Michelle M; Londero, Vanessa; Moalem, Sharon; Orr, Jennifer; Rossignol, Francis; Lopes, Fatima Daniela; Gauthier, Julie; Alos, Nathalie; Rupps, Rosemarie; McKinnon, Margaret; Adam, Shelin; Nowaczyk, Malgorzata J M; Walker, Susan; Scherer, Stephen W; Nassif, Christina; Hamdan, Fadi F; Deal, Cheri L; Soucy, Jean-François; Weksberg, Rosanna; Macleod, Patrick; Michaud, Jacques L; Chitayat, David.
Affiliation
  • Jobling R; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Stavropoulos DJ; Division of Clinical Genetics and Metabolism, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Marshall CR; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Cytrynbaum C; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
  • Axford MM; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Londero V; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Moalem S; Division of Clinical Genetics and Metabolism, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Orr J; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Rossignol F; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Lopes FD; Regenoron, New York City, New York, USA.
  • Gauthier J; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Alos N; CHU Sainte-Justine, Montréal, Quebec, Canada.
  • Rupps R; Department of Pediatrics, Université de Montréal, Montréal, Quebec, Canada.
  • McKinnon M; CHU Sainte-Justine, Montréal, Quebec, Canada.
  • Adam S; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.
  • Nowaczyk MJM; ICVS/3B's - PT Government Associate Laboratory, Guimarães, Portugal.
  • Walker S; CHU Sainte-Justine, Montréal, Quebec, Canada.
  • Scherer SW; CHU Sainte-Justine, Montréal, Quebec, Canada.
  • Nassif C; Department of Pediatrics, Université de Montréal, Montréal, Quebec, Canada.
  • Hamdan FF; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Deal CL; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Soucy JF; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Weksberg R; Division of Clinical Pathology, McMaster University, Hamilton, Ontario, Canada.
  • Macleod P; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Michaud JL; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Chitayat D; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
J Med Genet ; 55(5): 316-321, 2018 05.
Article in En | MEDLINE | ID: mdl-29599419
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Growth Hormone / Proteins / Intellectual Disability Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: J Med Genet Year: 2018 Type: Article Affiliation country: Canada
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Growth Hormone / Proteins / Intellectual Disability Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: J Med Genet Year: 2018 Type: Article Affiliation country: Canada