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Refining the phenotype associated with biallelic DNAJC21 mutations.
D'Amours, G; Lopes, F; Gauthier, J; Saillour, V; Nassif, C; Wynn, R; Alos, N; Leblanc, T; Capri, Y; Nizard, S; Lemyre, E; Michaud, J L; Pelletier, V-A; Pastore, Y D; Soucy, J-F.
Affiliation
  • D'Amours G; Service de Génétique Médicale, CHU Sainte-Justine, Montréal, Canada.
  • Lopes F; Faculté de Médecine, Université de Montréal, Montréal, Canada.
  • Gauthier J; Centre de Recherche, CHU Sainte-Justine, Montréal, Canada.
  • Saillour V; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.
  • Nassif C; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
  • Wynn R; Laboratoire de Diagnostic Moléculaire, CHU Sainte-Justine, Montréal, Canada.
  • Alos N; Centre de Recherche, CHU Sainte-Justine, Montréal, Canada.
  • Leblanc T; Centre Intégré de Génomique Clinique Pédiatrique, Montréal, Canada.
  • Capri Y; Centre de Recherche, CHU Sainte-Justine, Montréal, Canada.
  • Nizard S; Blood and Marrow Transplant Unit, Royal Manchester Children's Hospital, Manchester, UK.
  • Lemyre E; Service d'Endocrinologie, CHU Sainte-Justine, Montréal, Canada.
  • Michaud JL; Département de Pédiatrie, Université de Montréal, Montréal, Canada.
  • Pelletier VA; Département d'Hématologie Pédiatrique, CHU Robert-Debré, Paris, France.
  • Pastore YD; Service de Génétique Clinique, CHU Robert-Debré, Paris, France.
  • Soucy JF; Service de Génétique Médicale, CHU Sainte-Justine, Montréal, Canada.
Clin Genet ; 94(2): 252-258, 2018 08.
Article in En | MEDLINE | ID: mdl-29700810
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Bone Marrow Diseases / Genomic Instability / HSP40 Heat-Shock Proteins / Hemoglobinuria, Paroxysmal / Anemia, Aplastic Type of study: Diagnostic_studies / Risk_factors_studies Limits: Child, preschool / Female / Humans / Infant / Male Language: En Journal: Clin Genet Year: 2018 Document type: Article
Fulltext
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Bone Marrow Diseases / Genomic Instability / HSP40 Heat-Shock Proteins / Hemoglobinuria, Paroxysmal / Anemia, Aplastic Type of study: Diagnostic_studies / Risk_factors_studies Limits: Child, preschool / Female / Humans / Infant / Male Language: En Journal: Clin Genet Year: 2018 Document type: Article