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Rothmundov-Thomsonov syndróm
SYS d011038 LBL 00000cz--a2200000o--4500 005 20250606212854.2 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C16.131.831.775 065 $a C16.320.850.765 065 $a C16.614.760 065 $a C17.800.804.775 065 $a C17.800.827.775 065 $a C18.452.284.760 066 $a 01 $c 03 150 $a Rothmundov-Thomsonov 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 Poikiloderma Congenitale $2 eng 450 $w v $a poikilodermia kongenitálna $2 slo 450 $w v $a poikilodermia vrodená $2 slo 550 $7 sllk_us_auth*d053484 $Y RecQ Helicases $w b $a RecQ helikázy 665 $a 2006 (1964) $2 eng 680 9-
$i An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM. $2 eng 750 -2
$a Rothmund-Thomson Syndrome $2 eng 980 $x M
Number of the records: 1