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  • Isolated pancreatic aplasia due to a hypomorphic PTF1A mutation 

    Houghton, JA; Swift, GH; Shaw-Smith, C; Flanagan, SE; de Franco, E; Caswell, R; Hussain, K; Mohamed, S; Abdulrasoul, M; Hattersley, AT; MacDonald, RJ; Ellard, S (American Diabetes Association, 2016-06-09)
    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, AM; Deeb, A; Johnson, M; Abdullah, M; Abdulrasoul, M; Al-Awneh, H; Al-Maghamsi, MS; Al-Murshedi, F; Al-Saif, R; Al-Sinani, S; Ramadan, D; Tfayli, H; Flanagan, SE; Ellard, S (Karger, 2015-04)
    BACKGROUND: 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. AIMS: To ...