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dyskeratóza kongenitálna
SYS d019871 LBL 00000cz--a2200000o--4500 005 20250606220203.7 008 970620|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C15.378.190.223.500.750 065 $a C16.131.831.150 065 $a C16.320.322.108 065 $a C16.320.850.235 065 $a C17.800.804.150 065 $a C17.800.827.235 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Dyskeratosis Congenita, X-Linked $2 eng 450 $w v $a Zinsser-Cole-Engman Syndrome $2 eng 450 $w v $a dyskeratosis congenita, viazaná na X-chromozóm $2 slo 450 $w v $a Zinsserov-Coleho-Engmannov syndróm $2 slo 450 $w v $a Zinsserov-Coleov-Engmannov syndróm $2 slo 450 $w v $a Zinsserov-Engmannov-Coleov syndróm $2 slo 450 $w v $a Zinsserov-Engmannov-Coleho syndróm $2 slo 665 $a 98 $2 eng 680 9-
$i 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. $2 eng 750 -2
$a Dyskeratosis Congenita $2 eng 980 $x M
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