Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
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| Title: | Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach. |
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| Authors: | de Kock L; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada., Cuillerier A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada., Gillespie M; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Couse M; The Centre for Computational Medicine, the Hospital for Sick Children (SickKids) Research Institute, Toronto, Ontario, Canada., Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Mears W; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Bernier FP; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada., Chudley AE; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Frosk P; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Nikkel SM; Provincial Medical Genetics Program, BC Women's Hospital, Vancouver, British Columbia, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Innes AM; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada., Lauzon J; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada., Thomas M; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada., Guerin A; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, Ontario, Canada., Armour CM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Weksberg R; Division of Clinical and Metabolic Genetics, Department of Paediatrics and Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Medical Sciences and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Scott JN; Departments of Diagnostic Imaging and Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada., Watkins D; Northeastern Ontario Medical Genetics Program, Health Sciences North, Greater Sudbury, Ontario, Canada., Harvey S; Program of Genetics and Metabolism, Health Sciences Centre, Winnipeg, Manitoba, Canada., Cytrynbaum C; Division of Clinical and Metabolic Genetics, Department of Genetic Counselling and Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada., Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Newborn Screening Ontario, Ottawa, Ontario, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. |
| Corporate Authors: | Care4Rare Canada Consortium; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63466. Date of Electronic Publication: 2023 Nov 10. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63466 |
