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Bloomov syndróm

  1. Subject h.Bloomov syndróm
    Subject h.Bloom Syndrome
    Entry termsBloomov-Torreov-Machacekov syndróm
    teleangiektasiae faciales
    English X referencesBloom-Torre-Machacek Syndrome
    Scope note in EnglishAn autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
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