Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome
- Blood. 2017 Mar 16;129(11):1557-1562. doi: 10.1182/blood-2016-08-735431.
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