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    • Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. 

      Houghton, Jayne A. L.; Swift, G. H.; Shaw-Smith, Charles; Flanagan, S. E.; De Franco, E.; Caswell, Richard C.; Hussain, K.; Mohamed, S.; Abdulrasoul, M.; Hattersley, Andrew T.; MacDonald, R. J.; Ellard, Sian (American Diabetes Association, 2016-09)
      Homozygous truncating mutations in the helix-loop-helix transcription factor PTF1A are a rare cause of pancreatic and cerebellar agenesis. The correlation of Ptf1a dosage with pancreatic phenotype in a mouse model suggested ...