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- [1] Barrett TG(1997)Wolfram (DIDMOAD) syndrome J Med Genet 34 838-841
- [2] Bundy SE(2009)Current developments in Wolfram syndrome J Pediatr Endocrinol Metab 22 3-10
- [3] Ganie MA(2010)Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists Pedatr Diabetes 11 28-37
- [4] Bhat D(2014)Phenotypical and genotypical expression of Wolfram syndrome in 12 patients from a Sicilian district where this syndrome might not be so infrequent as generally expected J Endocrinol Investig 37 195-202
- [5] Kumar S(2013)Phenotypic characteristics of early Wolfram syndrome Orphanet J Rare Dis 8 64-1463
- [6] Lombardo F(1995)Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome Lancet 346 1458-62
- [7] Salzano G(2004)Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations Audiol Neurootol 9 51-506
- [8] Di Bella C(2013)Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype Genet Med 15 497-439
- [9] Aversa T(2015)Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders Clin Genet 87 430-5
- [10] Pugliatti F(2015)A challenging form of non-autoimmune insulin-dependent diabetes in a Wolfram syndrome patient with a novel sequence variant J Diabetes Metab 6 1-1570