2. Academic Validation
  3. Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome

  • Blood. 2017 Mar 16;129(11):1557-1562. doi: 10.1182/blood-2016-08-735431.
Santhosh Dhanraj 1 2,  Anna Matveev 1 2,  Hongbing Li 1,  Supanun Lauhasurayotin 1 3,  Lawrence Jardine 4,  Michaela Cada 3,  Bozana Zlateska 1,  Chetankumar S Tailor 1,  Joseph Zhou 1,  Roberto Mendoza-Londono 5,  Ajoy Vincent 6,  Peter R Durie 7,  Stephen W Scherer 1 8 9,  Johanna M Rommens 1 9,  Elise Heon 1 6,  Yigal Dror 1 2 3
Affiliations

Affiliations

  • 1 Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.
  • 2 Institute of Medical Science, University of Toronto, Toronto, ON, Canada.
  • 3 Marrow Failure and Myelodysplasia Program, Division of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
  • 4 Division of Haematology Oncology, Children's Hospital of Western Ontario, London, ON, Canada.
  • 5 Division of Clinical and Metabolic Genetics.
  • 6 Department of Ophthalmology and Vision Sciences, and.
  • 7 Division of Gastroenterology and Nutrition, The Hospital for Sick Children, Toronto, ON, Canada; and.
  • 8 McLaughlin Centre and.
  • 9 Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
PMID: 28062395 DOI: 10.1182/blood-2016-08-735431
Figures