Počet záznamov: 1
Silverov-Russellov syndróm
SYS d056730 LBL 00000nx--j2200000---45-- 005 20240119201505.1 100 $a 20100101asloy0103----ba0 152 $b mesh 250 $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 $8 slo 300 1-
$a 2010 $8 eng 300 1-
$a Growth Disorders (1970-2009) $8 eng 330 1-
$a 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. $8 eng 450 $a Silver Russell Dwarfism $5 e $8 eng 450 $a Silver-Russell Dwarfism $5 e $8 eng 450 $a Russellov-Silverov syndróm $5 e $8 slo 450 $a Silverova Russelova zakrpatenosť $5 e $8 slo 550 $3 sllk_un_auth*d001506 $Y Beckwith-Wiedemann Syndrome $5 B $a Beckwithov-Wiedemannov syndróm 550 $3 sllk_un_auth*d001506 $Y Beckwith-Wiedemann Syndrome $5 F $a Beckwithov-Wiedemannov syndróm 686 $a C05.660.207.925 686 $a C16.131.077.855 686 $a C16.131.260.870 686 $a C16.320.180.870 686 $a C16.320.240.937 686 $a C16.320.447.750 750 $a Silver-Russell Syndrome $8 eng 801 -0
$a SK $b BA006 $c 20100316 801 -0
$a SK $b BA006 $c 20101104 980 $x M
Počet záznamov: 1