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A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement

Authors

  • M Al-Shammari,

    1. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    2. Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia
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  • M Al-Husain,

    1. Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia
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  • T Al-Kharfy,

    1. Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia
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  • FS Alkuraya

    Corresponding author
    1. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    2. Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia
    3. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
      Fowzan S Alkuraya, MD
      Developmental Genetics Unit
      Department of Genetics
      King Faisal Specialist Hospital and Research Center
      MBC 03
      Riyadh 11211
      Saudi Arabia
      Tel.: +966 1 442 7875
      Fax: +966 1 442 4585
      e-mail: falkuraya@kfshrc.edu.sa [PO BOX 3354]
    Search for more papers by this author

Fowzan S Alkuraya, MD
Developmental Genetics Unit
Department of Genetics
King Faisal Specialist Hospital and Research Center
MBC 03
Riyadh 11211
Saudi Arabia
Tel.: +966 1 442 7875
Fax: +966 1 442 4585
e-mail: falkuraya@kfshrc.edu.sa [PO BOX 3354]

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