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Coffinov-Lowryho syndróm
SYS d038921 LBL 00000nx--j22000003--45-- 005 20240119201427.5 100 $a 20020703csloy0103----ba0 152 $b mesh 250 $a Coffinov-Lowryho 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 2003 $8 eng 300 1-
$a Mental Retardation/genetics (1975-2002) $8 eng 330 1-
$a A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations. $8 eng 550 $3 sllk_un_auth*d019893 $Y Ribosomal Protein S6 Kinases $5 B $a proteín-S6-kinázy ribozómové 550 $3 sllk_un_auth*d019893 $Y Ribosomal Protein S6 Kinases $5 F $a proteín-S6-kinázy ribozómové 686 $a C10.597.606.360.455.249 686 $a C16.320.322.500.249 686 $a C16.320.400.525.249 750 $a Coffin-Lowry Syndrome $8 eng 801 -0
$a US $b DNLM $c 20020703 801 -2
$a SK $b BA006 $c 20030619 980 $x M
Počet záznamov: 1