Počet záznamov: 1
Cockayneov syndróm
SYS d003057 LBL 00000cx--j22000003--45-- 005 20240119201139.5 100 $a 19920509csloy0103----ba0 152 $b mesh 250 $a Cockayneov syndróm $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $8 slo 300 1-
$a 1991(1981); use DWARFISM 1981-1990 $8 eng 300 1-
$a Dwarfism (1966-1980) $8 eng 300 1-
$a Photosensitivity Disorders (1966-1980) $8 eng 330 1-
$a 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. $8 eng 450 $a Progeria-Like Syndrome $5 e $8 eng 450 $a nanismus progeroides $5 e $8 slo 450 $a syndróm progeroidný $5 e $8 slo 550 $3 sllk_un_auth*d008607 $Y Intellectual Disability $5 F $a postihnutie intelektuálne 550 $3 sllk_un_auth*d011371 $Y Progeria $5 B $a progéria 686 $a C05.116.099.343.250 686 $a C10.574.500.362 686 $a C16.131.077.250 686 $a C16.320.240.562 686 $a C16.320.400.200 686 $a C18.452.284.250 750 $a Cockayne Syndrome $8 eng 801 -0
$a US $b DNLM $c 19920509 801 -2
$a SK $b BA006 $c 20020709 980 $x M
Počet záznamov: 1