Recurrent KIF2A mutations are responsible for classic lissencephaly.

Cavallin, Mara

Recurrent KIF2A mutations are responsible for classic lissencephaly. [electronic resource] - Neurogenetics Apr 2017 - 73-79 p. digital

Publication Type: Case Reports; Journal Article

1364-6753

10.1007/s10048-016-0499-8 doi


Adolescent
Classical Lissencephalies and Subcortical Band Heterotopias--genetics
DNA Mutational Analysis
Female
Gene Frequency
Humans
Infant
Kinesins--genetics
Lissencephaly--genetics
Male
Mutation, Missense
Polymorphism, Single Nucleotide