Number of the records: 1
dyskeratóza kongenitálna
SYS d019871 LBL 00000cx--j22000003--45-- 005 20240119200302.1 100 $a 19970620csloy0103----ba0 152 $b mesh 250 $a dyskeratóza kongenitálna $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 98 $8 eng 330 1-
$a A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin. $8 eng 450 $a Dyskeratosis Congenita, X-Linked $5 e $8 eng 450 $a Zinsser-Cole-Engman Syndrome $5 e $8 eng 450 $a dyskeratosis congenita, viazaná na X-chromozóm $5 e $8 slo 450 $a Zinsserov-Coleho-Engmannov syndróm $5 e $8 slo 450 $a Zinsserov-Coleov-Engmannov syndróm $5 e $8 slo 450 $a Zinsserov-Engmannov-Coleov syndróm $5 e $8 slo 450 $a Zinsserov-Engmannov-Coleho syndróm $5 e $8 slo 686 $a C15.378.190.223.500.750 686 $a C16.131.831.150 686 $a C16.320.322.108 686 $a C16.320.850.235 686 $a C17.800.804.150 686 $a C17.800.827.235 750 $a Dyskeratosis Congenita $8 eng 801 -0
$a US $b DNLM $c 19970620 801 -2
$a SK $b BA006 $c 20020503 980 $x M
Number of the records: 1