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Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers-Danlos syndrome.
Damseh, Nadirah; Dupuis, Lucie; O'Connor, Constance; Oh, Rachel Youjin; Wang, Yi Wen; Stavropoulos, Dimitri James; Schwartz, Sarah B; Mendoza-Londono, Roberto.
Afiliación
  • Damseh N; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Dupuis L; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • O'Connor C; Division of Paediatric Medicine, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Oh RY; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Wang YW; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Stavropoulos DJ; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Schwartz SB; Division of Paediatric Medicine, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Mendoza-Londono R; 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 ; 188(5): 1376-1383, 2022 05.
Article en En | MEDLINE | ID: mdl-35128800
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Texto completo: 1 Colección: 01-internacional Asunto principal: Anomalías Cutáneas / Enfermedades del Tejido Conjuntivo / Síndrome de Ehlers-Danlos / Inestabilidad de la Articulación Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Canadá
Texto completo
Imprimir
XML
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Buscar en Google

Texto completo: 1 Colección: 01-internacional Asunto principal: Anomalías Cutáneas / Enfermedades del Tejido Conjuntivo / Síndrome de Ehlers-Danlos / Inestabilidad de la Articulación Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Canadá