Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.

Cavallin, Mara

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly. [electronic resource] - Neurogenetics Jan 2016 - 79-82 p. digital

Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't

1364-6753

10.1007/s10048-015-0459-8 doi


Amino Acid Substitution
Child, Preschool
Gene Frequency
Humans
Kinesins--chemistry
Lissencephaly--diagnosis
Magnetic Resonance Imaging
Male
Microcephaly--diagnosis
Models, Molecular
Mutation, Missense
Protein Conformation