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A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption. J Pediatr 1971;79:982-987."},{"key":"ref2","unstructured":"Hurst JA, Baraitser M. Johanson-Blizzard syndrome. J Med Genet 1989;26:45-48."},{"key":"ref3","unstructured":"Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hulskamp G, Guzman C, Rehder H. Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet 2005;37:1345-1350."},{"key":"ref4","unstructured":"Zenker M, Mayerle J, Reis A, Lerch MM. Genetic basis and pancreatic biology of Johanson-Blizzard syndrome. Endocrinol Metab Clin North Am 2006;35:243-253, vii-viii."},{"key":"ref5","unstructured":"Sandhu BK, Brueton MJ. Concurrent pancreatic and growth hormone insufficiency in Johanson-Blizzard syndrome. J Pediatr Gastroenterol Nutr 1989;9:535-538."},{"key":"ref6","unstructured":"Kristjansson K, Hoffman WH, Flannery DB, Cohen MJ. Johanson-Blizzard syndrome and hypopituitarism. J Pediatr 1988;113:851-853."},{"key":"ref7","unstructured":"Takahashi T, Fujishima M, Tsuchida S, Enoki M, Takada G. Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia. J Pediatr Endocrinol Metab 2004;17:1141-1144."},{"key":"ref8","unstructured":"Alpay F, Gul D, Lenk MK, Ogur G. Severe intrauterine growth retardation, aged facial appearance, and congenital heart disease in a newborn with Johanson-Blizzard syndrome. Pediatr Cardiol 2000;21:389-390."},{"key":"ref9","unstructured":"Moeschler JB, Lubinsky MS. Johanson-Blizzard syndrome with normal intelligence. Am J Med Genet 1985;22:69-73."},{"key":"ref10","unstructured":"Jones NL, Hofley PM, Durie PR. Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development. J Pediatr 1994;125:406-408."},{"key":"ref11","unstructured":"Daentl DL, Frias JL, Gilbert EF, Opitz JM. The Johanson-Blizzard syndrome: case report and autopsy findings. Am J Med Genet 1979;3:129-135."},{"key":"ref12","unstructured":"Steinbach WJ, Hintz RL. Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome. J Pediatr Endocrinol Metab 2000;13:1633-1636."},{"key":"ref13","unstructured":"Trellis DR, Clouse RE. Johanson-Blizzard syndrome. Progression of pancreatic involvement in adulthood. Dig Dis Sci 1991;36:365-369."},{"key":"ref14","unstructured":"Ciechanover A, Schwartz AL. The ubiquitin system: pathogenesis of human diseases and drug targeting. Biochim Biophys Acta 2004;1695:3-17."},{"key":"ref15","unstructured":"Pickart CM. Back to the future with ubiquitin. Cell 2004;116:181-190."},{"key":"ref16","unstructured":"Hershko A, Ciechanover A, Varshavsky A. Basic Medical Research Award. The ubiquitin system. 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