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Pallisterov-Hallovej syndróm
SYS d054975 LBL 00000nx--j2200000---45-- 005 20240119200609.3 100 $a 20080101asloy0103----ba0 152 $b mesh 250 $a Pallisterov-Hallovej 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 2009 $8 eng 330 1-
$a A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member. $8 eng 686 $a C04.445.622 686 $a C04.588.614.250.195.885.500.299 686 $a C05.660.585.600.374 686 $a C10.228.140.211.885.500.299 686 $a C10.228.140.617.477.299 686 $a C10.551.240.250.700.500.249 686 $a C16.131.077.690 686 $a C16.131.621.585.600.374 750 $a Pallister-Hall Syndrome $8 eng 801 -0
$a SK $b BA006 $c 20081218 980 $x M
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