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Silverov-Russellov syndróm
SYS d056730 LBL 00000nz--a2200000n--4500 005 20250606214952.6 008 100101|||anznnbabn-----------|-a|a------ 040 $b slo $a BA006 $a BA006 065 $a C05.660.207.925 065 $a C16.131.077.855 065 $a C16.131.260.870 065 $a C16.320.180.870 065 $a C16.320.240.937 065 $a C16.320.447.750 066 $a 01 $c 03 150 $a Silverov-Russellov 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 Silver Russell Dwarfism $2 eng 450 $w v $a Silver-Russell Dwarfism $2 eng 450 $w v $a Russellov-Silverov syndróm $2 slo 450 $w v $a Silverova Russelova zakrpatenosť $2 slo 550 $7 sllk_us_auth*d001506 $Y Beckwith-Wiedemann Syndrome $w b $a Beckwithov-Wiedemannov syndróm 550 $7 sllk_us_auth*d001506 $Y Beckwith-Wiedemann Syndrome $w p $a Beckwithov-Wiedemannov syndróm 665 $a 2010 $2 eng 665 $a Growth Disorders (1970-2009) $2 eng 680 9-
$i Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology. $2 eng 750 -2
$a Silver-Russell Syndrome $2 eng 980 $x M
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