Two siblings with exocrine pancreatic hypoplasia and orofacial malformations (Donlan syndrome and Johanson-Blizzard syndrome).
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[1] P. Durie,et al. Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development. , 1994, The Journal of pediatrics.
[2] I. Lisse,et al. Agenesis of pancreas , 1994, Acta paediatrica.
[3] C. Bacino,et al. Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome. , 1993, The Journal of pediatrics.
[4] K. Nagashima,et al. A case of Johanson‐Blizzard syndrome complicated by diabetes mellitus , 1993, Clinical genetics.
[5] R. Gershoni-baruch,et al. Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome. , 1990, American journal of medical genetics.
[6] M. Brueton,et al. Concurrent pancreatic and growth hormone insufficiency in Johanson-Blizzard syndrome. , 1989, Journal of pediatric gastroenterology and nutrition.
[7] J. Paton,et al. Johanson-Blizzard syndrome: clinical and pathological findings in 2 sibs. , 1989, American journal of medical genetics.
[8] J. Hurst,et al. Johanson-Blizzard syndrome. , 1989, Journal of medical genetics.
[9] M. J. Cohen,et al. Johanson-Blizzard syndrome and hypopituitarism. , 1988, The Journal of pediatrics.
[10] A. Parke,et al. Antimalarial drugs, systemic lupus erythematosus and pregnancy. , 1988, The Journal of rheumatology.
[11] D. Hill,et al. Insulin as a Growth Factor , 1985, Pediatric Research.
[12] I. Helin,et al. A syndrome of congenital hypoplasia of the alae nasi, situs inversus, and severe hypoproteinemia in two siblings. , 1981, The Journal of pediatrics.
[13] P. Aggett,et al. Shwachman's syndrome. A review of 21 cases. , 1980, Archives of disease in childhood.
[14] R. Hoffman,et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. , 1979, The Journal of pediatrics.
[15] R. Blizzard,et al. A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption. , 1971, The Journal of pediatrics.
[16] R. Naunton,et al. Ototoxicity of chloroquine. , 1968, Archives of otolaryngology.
[17] J. Moeschler,et al. The Johanson-Blizzard syndrome: a second report of full autopsy findings. , 1987, American journal of medical genetics.