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SCYL1 disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis of SCYL1.
McNiven, Vanda; Gattini, Daniela; Siddiqui, Iram; Pelletier, Stephane; Brill, Herbert; Avitzur, Yaron; Mercimek-Andrews, Saadet.
Affiliation
  • McNiven V; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Gattini D; Division of Gastroenterology, Hepatology & Nutrition, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Siddiqui I; Department of Pathology, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Pelletier S; Genome Editing Center, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Purdue University, Indianapolis, Indiana, USA.
  • Brill H; Division of Gastroenterology & Nutrition, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada.
  • Avitzur Y; Division of Gastroenterology, Hepatology & Nutrition, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
Am J Med Genet A ; 185(4): 1091-1097, 2021 04.
Article in En | MEDLINE | ID: mdl-33442927
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Genetic Predisposition to Disease / Adaptor Proteins, Vesicular Transport / DNA-Binding Proteins / Nervous System Malformations Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Child / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Type: Article Affiliation country: Canada
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Genetic Predisposition to Disease / Adaptor Proteins, Vesicular Transport / DNA-Binding Proteins / Nervous System Malformations Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Child / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Type: Article Affiliation country: Canada