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
  • 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.