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Rothmundov-Thomsonov syndróm
SYS d011038 LBL 00000cx--j22000003--45-- 005 20240119201451.2 100 $a 19990101csloy0103----ba0 152 $b mesh 250 $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 $8 slo 300 1-
$a 2006 (1964) $8 eng 330 1-
$a 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. $8 eng 450 $a Poikiloderma Congenitale $5 e $8 eng 450 $a poikilodermia kongenitálna $5 e $8 slo 450 $a poikilodermia vrodená $5 e $8 slo 550 $3 sllk_un_auth*d053484 $Y RecQ Helicases $5 B $a RecQ helikázy 686 $a C16.131.831.775 686 $a C16.320.850.765 686 $a C16.614.760 686 $a C17.800.804.775 686 $a C17.800.827.775 686 $a C18.452.284.760 750 $a Rothmund-Thomson Syndrome $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20060328 980 $x M
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