A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A.
Guoling TianAna G CristanchoHolly A DubbsGrant T LiuNicholas J CowanEthan M GoldbergPublished in: Molecular genetics & genomic medicine (2016)
Findings support the pathogenic link between KIF2A mutation and lissencephaly, and expand the range of presentation to include infantile spasms and congenital anomalies.
Keyphrases