Number of the records: 1
Marfanov syndróm
SYS d008382 LBL 00000cx--j2200000---45-- 005 20240119201506.3 100 $a 19990101asloy0103----ba0 152 $b mesh 250 $a Marfanov 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 1985; use ARACHNODACTYLY 1963-1984 $8 eng 330 1-
$a An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2. $8 eng 450 $a Marfan Like Connective Tissue Disorder $5 e $8 eng 450 $a Marfan Syndrome Type 1 $5 e $8 eng 450 $a Marfan Syndrome Type 2 $5 e $8 eng 450 $a Marfan Syndrome, Type II $5 e $8 eng 450 $a porucha spojivového tkaniva podobná Marfanovmu syndrómu $5 e $8 slo 450 $a Marfanov syndróm, typ 1 $5 e $8 slo 450 $a Marfanov syndróm typu I $5 e $8 slo 450 $a Marfanov syndróm, typ 2 $5 e $8 slo 450 $a Marfanov syndróm typu II $5 e $8 slo 550 $3 sllk_un_auth*d055947 $Y Loeys-Dietz Syndrome $5 F $a Loeysov-Dietzov syndróm 550 $3 sllk_un_auth*d056846 $Y Weill-Marchesani Syndrome $5 F $a Weillov-Marchesaniho syndróm 550 $3 sllk_un_auth*d055947 $Y Loeys-Dietz Syndrome $5 B $a Loeysov-Dietzov syndróm 550 $3 sllk_un_auth*d056846 $Y Weill-Marchesani Syndrome $5 B $a Weillov-Marchesaniho syndróm 686 $a C05.116.099.674 686 $a C14.240.400.725 686 $a C14.280.400.725 686 $a C16.131.077.550 686 $a C16.131.240.400.720 686 $a C16.320.540 686 $a C17.300.500 750 $a Marfan Syndrome $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20070706 801 -2
$a SK $b BA006 $c 20080701 801 -2
$a SK $b BA006 $c 20220629 980 $x M
Number of the records: 1