Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly
about
Recurrent KIF2A mutations are responsible for classic lissencephaly.A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.Lissencephaly: Expanded imaging and clinical classification.Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.Comprehensive genotype-phenotype correlation in lissencephaly
P2860
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly
description
im September 2015 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована у вересні 2015
@uk
name
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly
@en
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly
@nl
type
label
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly
@en
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly
@nl
prefLabel
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly
@en
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly
@nl
P2093
P2860
P50
P1433
P1476
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly
@en
P2093
Catherine Vincent-Delorme
Cecile Masson
Claude Besmond
Jean Christophe Cuvellier
Laurence Hubert
Mara Cavallin
P2860
P2888
P356
10.1007/S10048-015-0459-8
P577
2015-09-19T00:00:00Z