Počet záznamov: 1
lissencefália cobblestone
SYS d054222 LBL 00000nx--j2200000---45-- 005 20240119200557.1 100 $a 20080101asloy0103----ba0 152 $b mesh 250 $a lissencefália cobblestone $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 2008 $8 eng 300 1-
$a Cerebral Cortex/abnormalities (1996-2007) $8 eng 330 1-
$a The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease. $8 eng 450 $a Cobblestone Complex $5 e $8 eng 450 $a Cobblestone Dysplasia $5 e $8 eng 450 $a Lissencephaly Type 2 $5 e $8 eng 450 $a cobblestone komplex $5 e $8 slo 450 $a dysplázia cobblestone $5 e $8 slo 450 $a lissencefália, typ 2 $5 e $8 slo 450 $a lissencefália typu 2 $5 e $8 slo 686 $a C10.500.507.450.499.249 686 $a C16.131.666.507.450.249 686 $a C16.131.666.507.450.499.249 750 $a Cobblestone Lissencephaly $8 eng 801 -0
$a SK $b BA006 $c 20080318 980 $x M
Počet záznamov: 1