Shwachman H. , Diamond LK, Oski FA, Khaw KTThe syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr. 1964;65:645-663.
2.
Woloszynek JR , Rothbaum RJ, Rawls AS, et al. Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. Blood. 2004;104: 3588-3590.
3.
Boocock GR, Morrison JA, Popovic M., et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome . Nat Genet. 2003;33:97-101.
4.
Kuijpers TW, Nannenberg E., Alders M., Bredius R., Hennekam RCCongenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome. Pediatrics. 2004;114: e387-e391.
5.
Toiviainen-Salo S., Raade M., Durie PR, et al. Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene. J Pediatr. 2008;152:434-436.
6.
Ganapathi KA , Austin KM, Lee CS, et al. The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. Blood. 2007;110:1458-1465.
7.
Austin KM, Gupta ML, Coats SA, et al. Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. J Clin Invest. 2008;118:1511-1518.
8.
Nicolis E.,Bonizzato A.,Assael BM,Cipolli M.Identification of novel mutations in patients with Shwachman-Diamond syndrome . Hum Mutat. 2005;25:410.
9.
Kamoda T., Saito T., Kinugasa H., et al. A case of Shwachman-Diamond syndrome presenting with diabetes from early infancy. Diabetes Care. 2005;28:1508-1509.
10.
Filippi L., Tronchin M., Pezzati M., et al. Shwachman syndrome in a preterm newborn associated with transient diabetes mellitus. J Pediatr Gastroenterol Nutr. 2002; 34:219-223.