Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome

Blood. 2017 Mar 16;129(11):1557-1562. doi: 10.1182/blood-2016-08-735431. Epub 2017 Jan 6.

Santhosh Dhanraj^{1

2}, Anna Matveev^{1

2}, Hongbing Li¹, Supanun Lauhasurayotin^{1

3}, Lawrence Jardine⁴, Michaela Cada³, Bozana Zlateska¹, Chetankumar S Tailor¹, Joseph Zhou¹, Roberto Mendoza-Londono⁵, Ajoy Vincent⁶, Peter R Durie⁷, Stephen W Scherer^{1

8

9}, Johanna M Rommens^{1

9}, Elise Heon^{1

6}, Yigal Dror^{1

2

3}

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.

No abstract available

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