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Genotype-phenotype data from a case series of patients with mosaic neurofibromatosis type 1.
Marwaha, A; Malach, J; Shugar, A; Hedges, S; Weinstein, M; Parkin, P C; Pope, E; Lara-Corrales, I; Kannu, P.
Afiliação
  • Marwaha A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, M5G1X8, Canada.
  • Malach J; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, M5G1X8, Canada.
  • Shugar A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, M5G1X8, Canada.
  • Hedges S; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, M5G1X8, Canada.
  • Weinstein M; Division of Pediatric Medicine, Department of Pediatrics, University of Toronto Faculty of Medicine, Toronto, ON, Canada.
  • Parkin PC; Division of Pediatric Medicine, Department of Pediatrics, University of Toronto Faculty of Medicine, Toronto, ON, Canada.
  • Pope E; Section of Dermatology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, M5G1X8, Canada.
  • Lara-Corrales I; Section of Dermatology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, M5G1X8, Canada.
  • Kannu P; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, M5G1X8, Canada.
Br J Dermatol ; 179(5): 1216-1217, 2018 11.
Article em En | MEDLINE | ID: mdl-29957862

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Neurofibromatose 1 / Neurofibromina 1 / Genótipo / Mosaicismo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Neurofibromatose 1 / Neurofibromina 1 / Genótipo / Mosaicismo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article