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    Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation.

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    URI
    http://hdl.handle.net/11287/618198
    Author
    Gonc, E. N.
    Ozon, A.
    Alikasifoglu, A.
    Haliloğlu, M.
    Ellard, Sian
    Shaw-Smith, Charles
    Kandemir, N.
    Date
    2015
    Journal
    Hormone Research in Paediatrics
    Type
    Case Report
    Publisher
    Karger
    DOI
    10.1159/000435782
    Rights
    Archived with thanks to Hormone research in pædiatrics
    Metadata
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    Abstract
    Neonatal diabetes is a rare form of diabetes, characterized by onset in the first 6 months of life. A number of cases are due to pancreas agenesis. Recently, PTF1A enhancer mutations have been shown to cause neonatal diabetes associated with pancreatic agenesis. Herein, we report the clinical features of two siblings with PTF1A enhancer mutations, one of whom had neonatal diabetes, whereas the elder sister had a milder form of the disease with onset of diabetes at 9 years of age.
    Citation
    Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation. 2015, 84 (3):206-11 Horm Res Paediatr
    Publisher URL
    http://www.karger.com/?DOI=10.1159/000435782
    Collections
    • 2015 RD&E publications
    • Genetics and genomics
    • Molecular Genetics

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