Bloom Syndrome
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- čas přidán 19. 11. 2019
- Find doctors and ongoing clinical trials - www.xpertdox.com/disease/desc...
Bloom syndrome is a rare genetic disorder characterized by short stature; increased skin sensitivity to ultraviolet rays from the sun (photosensitivity); multiple small dilated blood vessels (telangiectasia) over the nose and cheeks resembling a butterfly in shape; mild immune deficiency with increased susceptibility to infections; and most importantly, a markedly increased susceptibility to many types of cancer, especially leukemia, lymphoma and gastrointestinal tract tumors.
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It is due to defect in double strand break repair which fail to repair damaged DNA exposed to ionising radiation , oxidative stress and bleomycin
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