Now showing items 1-2 of 2

    • 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 ...
    • Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort. 

      Habeb, A. M.; Deeb, A.; Johnson, M.; Abdullah, M.; Abdulrasoul, M.; Al-Awneh, H.; Al-Maghamsi, M. S. F.; Al-Murshedi, F.; Al-Saif, R.; Al-Sinani, S.; Ramadan, D.; Tfayli, H.; Flanagan, Sarah; Ellard, Sian (Karger, 2015-04)
      Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia. Hepatic dysfunction has been reported in 60% of patients.