Number of the records: 1  

Cockayneov syndróm

  1. Record numberd003057
    Date06.06.2025
    TypeM - MESH
    Topical termCockayneov syndróm
    Other termEnglish (Pseudonym) Progeria-Like Syndrome
    Slovak (Pseudonym) nanismus progeroides
    Slovak (Pseudonym) syndróm progeroidný
    See also(Skutočné meno) postihnutie intelektuálne
    (Later heading) progéria
    UDCC05.116.099.343.250C10.574.500.362C16.131.077.250C16.320.240.562C16.320.400.200C18.452.284.250
    NoteA 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.
    subject heading

    subject heading

Number of the records: 1  

  This site uses cookies to make them easier to browse. Learn more about how we use cookies.

Accept allSettingsReject all