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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. Abstract | Full Citation | Publisher Full Text | Find Related Articles | | 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. Abstract | Full Citation | | Costa E, Santos R Hematologically important mutations: Shwachman-Diamond syndrome. [JOURNAL ARTICLE] Blood Cells Mol Dis 2007 Oct 2. Abstract | Full Citation | Publisher Full Text | Find Related Articles | | 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. Abstract | Full Citation | Publisher Full Text | Find Related Articles | | 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. Abstract | Full Citation | Publisher Full Text | Find Related Articles | | 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. Abstract | Full Citation | Publisher Full Text | Find Related Articles | | 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. Abstract | Full Citation | Publisher Full Text | Find Related Articles | | 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. Abstract | Full Citation | | 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. Abstract | Full Citation | Find Related Articles |  |
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