A 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.
Pozri aj (FX) v slov.
postihnutie intelektuálne
Pozri aj (FX) v angl.
Intellectual Disability
Odkazy
(2) - ČLÁNKY
(2) - heslo MeSH
(2) - KNIHY
predmetové heslo
openseadragon
Počet záznamov: 1
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