Associated Papers
Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review.
Han X et al.
Bmc Pediatrics, 2023
Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients.
Minelli A et al.
Blood Cells, Molecules & Diseases, 2016
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
Carvalho CM et al.
Bmc Medical Genetics, 2014
Do ribosomopathies explain some cases of common variable immunodeficiency?
Khan S et al.
Clinical and Experimental Immunology, 2011
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