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Albrecht LA, Gorges SW, Styne DM, et al. 
Shwachman-Diamond Syndrome Presenting as Hypoglycemia. [JOURNAL ARTICLE]
Clin Pediatr (Phila) 2008 Oct 2.
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Nishimura G, Nakashima E, Hirose Y, et al. 
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. [Journal Article]
J Med Genet 2007 Apr; 44(4):e73.
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Costa E, Santos R 
Hematologically important mutations: Shwachman-Diamond syndrome. [JOURNAL ARTICLE]
Blood Cells Mol Dis 2007 Oct 2.
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Kawakami T, Mitsui T, Kanai M, et al. 
Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations. [Journal Article]
Tohoku J Exp Med 2005 Jul; 206(3):253-9.
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Woloszynek JR, Rothbaum RJ, Rawls AS, et al. 
Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. [Journal Article]
Blood 2004 Dec 1; 104(12):3588-90.
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Taneichi H, Kanegane H, Futatani T, et al. 
Clinical and genetic analyses of presumed shwachman-diamond syndrome in Japan. [Journal Article]
Int J Hematol 2006 Jul; 84(1):60-2.
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Nicolis E, Bonizzato A, Assael BM, et al. 
Identification of novel mutations in patients with Shwachman-Diamond syndrome. [Journal Article]
Hum Mutat 2005 Apr; 25(4):410.
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Rosendahl J, Teich N, Mossner J, et al. 
Compound Heterozygous Mutations of the SBDS Gene in a Patient with Shwachman-Diamond Syndrome, Type 1 Diabetes Mellitus and Osteoporosis. [JOURNAL ARTICLE]
Pancreatology 2006 Nov 10; 6(6):549-554.
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Erdos M, Alapi K, Balogh I, et al. 
Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene. [Journal Article]
Exp Hematol 2006 Nov; 34(11):1517-21.
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