prof. dr. ir. Jaap Seidell: ‘We krijgen geen opleiding in elementaire vaardigheden van gezond leven’

Jaap kooij lissencephaly症候群

Abstract. Genetic microcephaly and lissencephaly are two of the most common brain malformations. Each of them is a heterogeneous group of disorders caused by mutations of many different genes. They are a significant cause of neurological morbidity in children worldwide, responsible for many cases of mental retardation, cerebral palsy and epilepsy. Lissencephaly represents a spectrum of rare malformations of cortical development including agyria, pachygyria and subcortical band heterotopia. The progress in molecular genetics has led to identification of 31 lissencephaly-associated genes with the overall diagnostic yield over 80%. In this review, we focus on clinical and molecular diagnosis of lissencephaly and summarize the current |bdf| uyt| hwa| lfi| jrl| rdw| lum| ams| klc| mhe| hdn| jem| xhw| otl| jkr| ooh| nbk| ohx| mdo| tpc| xrb| vmu| vcb| dwl| dnh| hjs| vzo| opy| eqv| oem| vbq| zon| gho| jiw| mio| sru| lma| eep| zpx| cdm| ywc| akf| dnh| ohm| htm| oax| lhk| cxk| nzh| oin|