Number of the records: 1
Cockayneov syndróm
SYS d003057 LBL 00000cz--a2200000o--4500 005 20250606213407.1 008 920509|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C05.116.099.343.250 065 $a C10.574.500.362 065 $a C16.131.077.250 065 $a C16.320.240.562 065 $a C16.320.400.200 065 $a C18.452.284.250 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Progeria-Like Syndrome $2 eng 450 $w v $a nanismus progeroides $2 slo 450 $w v $a syndróm progeroidný $2 slo 550 $7 sllk_us_auth*d008607 $Y Intellectual Disability $w p $a postihnutie intelektuálne 550 $7 sllk_us_auth*d011371 $Y Progeria $w b $a progéria 665 $a 1991(1981); use DWARFISM 1981-1990 $2 eng 665 $a Dwarfism (1966-1980) $2 eng 665 $a Photosensitivity Disorders (1966-1980) $2 eng 680 9-
$i 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. $2 eng 750 -2
$a Cockayne Syndrome $2 eng 980 $x M
Number of the records: 1