title: Biallelic mutations inDNAJC21cause Shwachman-Diamond syndrome.
authors.affiliation: 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.
authors.forename: Santhosh
authors.initials: S
authors.lastname: Dhanraj
authors.affiliation: 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.
authors.forename: Anna
authors.initials: A
authors.lastname: Matveev
authors.affiliation: Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: Hongbing
authors.identifier: 0000-0003-1075-8440
authors.initials: H
authors.lastname: Li
authors.affiliation: Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.|Marrow Failure and Myelodysplasia Program, Division of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: Supanun
authors.initials: S
authors.lastname: Lauhasurayotin
authors.affiliation: Division of Haematology Oncology, Children's Hospital of Western Ontario, London, ON, Canada.
authors.forename: Lawrence
authors.initials: L
authors.lastname: Jardine
authors.affiliation: Marrow Failure and Myelodysplasia Program, Division of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: Michaela
authors.initials: M
authors.lastname: Cada
authors.affiliation: Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: Bozana
authors.initials: B
authors.lastname: Zlateska
authors.affiliation: Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: Chetankumar S
authors.initials: CS
authors.lastname: Tailor
authors.affiliation: Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: Joseph
authors.initials: J
authors.lastname: Zhou
authors.affiliation: Division of Clinical and Metabolic Genetics.
authors.forename: Roberto
authors.identifier: 0000-0003-3542-8106
authors.initials: R
authors.lastname: Mendoza-Londono
authors.affiliation: Department of Ophthalmology and Vision Sciences, and.
authors.forename: Ajoy
authors.identifier: 0000-0001-6446-3846
authors.initials: A
authors.lastname: Vincent
authors.affiliation: Division of Gastroenterology and Nutrition, The Hospital for Sick Children, Toronto, ON, Canada; and.
authors.forename: Peter R
authors.initials: PR
authors.lastname: Durie
authors.affiliation: Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.|McLaughlin Centre and.|Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
authors.forename: Stephen W
authors.identifier: 0000-0002-8326-1999
authors.initials: SW
authors.lastname: Scherer
authors.affiliation: Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.|Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
authors.forename: Johanna M
authors.identifier: 0000-0001-8732-825X
authors.initials: JM
authors.lastname: Rommens
authors.affiliation: Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.|Department of Ophthalmology and Vision Sciences, and.
authors.forename: Elise
authors.identifier: 0000-0003-4143-9311
authors.initials: E
authors.lastname: Heon
authors.affiliation: 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.
authors.forename: Yigal
authors.initials: Y
authors.lastname: Dror
mesh_terms: D000483:Alleles; D001855:Bone Marrow Diseases / Q000235:genetics*; D002675:Child, Preschool; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics*; D005260:Female; D050956:HSP40 Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008068:Lipomatosis / Q000235:genetics*; D009154:Mutation; D000081003:Shwachman-Diamond Syndrome
chemical_list: C000618996:DNAJC21 protein, human; D050956:HSP40 Heat-Shock Proteins