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Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families.

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  • معلومة اضافية
    • بيانات النشر:
      eScholarship, University of California, 2018.
    • الموضوع:
      2018
    • نبذة مختصرة :
      Bloom syndrome (BS) is a rare, autosomal recessive genetic disorder characterized by short stature, a skin rash associated with sun exposure, and an elevated likelihood of developing cancers of essentially all types, beginning at an early age. Cancer is the leading cause of death for persons with BS, and its early onset results in a reported median lifespan of
    • الرقم المعرف:
      edssch.oai:escholarship.org/ark:/13030/qt3hx0s80s