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Quoted phrase not found in phrase index: "Renal-hepatic-pancreatic dysplasia 2"
Page 1
Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered.
Bernstein J, Chandra M, Creswell J, Kahn E, Malouf NN, McVicar M, Weinberg AG, Wybel RE. Bernstein J, et al. Am J Med Genet. 1987 Feb;26(2):391-403. doi: 10.1002/ajmg.1320260218. Am J Med Genet. 1987. PMID: 3812591
Serial liver biopsies in one child with cholestasis from birth showed a progression from bile duct paucity at 1 1/2 wk to typical biliary "dysgenesis" at 7 mo. Four of the five children had intrahepatic ductal dilatation, diagnosed ante mortem in the two older children as …
Serial liver biopsies in one child with cholestasis from birth showed a progression from bile duct paucity at 1 1/2 wk to typical bil …
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
Frank V, Habbig S, Bartram MP, Eisenberger T, Veenstra-Knol HE, Decker C, Boorsma RA, Göbel H, Nürnberg G, Griessmann A, Franke M, Borgal L, Kohli P, Völker LA, Dötsch J, Nürnberg P, Benzing T, Bolz HJ, Johnson C, Gerkes EH, Schermer B, Bergmann C. Frank V, et al. Hum Mol Genet. 2013 Jun 1;22(11):2177-85. doi: 10.1093/hmg/ddt070. Epub 2013 Feb 14. Hum Mol Genet. 2013. PMID: 23418306