Biallelic mutations in cause Shwachman-Diamond syndrome.

Address: Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.; Marrow Failure and Myelodysplasia Program, Division of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Haematology Oncology, Children's Hospital of Western Ontario, London, ON, Canada.; Division of Clinical and Metabolic Genetics.; Department of Ophthalmology and Vision Sciences, and.; Division of Gastroenterology and Nutrition, The Hospital for Sick Children, Toronto, ON, Canada; and.; McLaughlin Centre and.; Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.