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Cockayneov syndróm

  1. Subject h.Cockayneov syndróm
    Subject h.Cockayne Syndrome
    Entry termsnanismus progeroides
    syndróm progeroidný
    English X referencesProgeria-Like Syndrome
    Scope note in EnglishA syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
    See also reference (FX) in Slovak postihnutie intelektuálne
    See also reference (FX) in English Intellectual Disability
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