Počet záznamov: 1

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

Počet záznamov: 1