Article
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Human molecular genetics - 1 Jul 2015
Pagnamenta Alistair T, Howard Malcolm F, Wisniewski Eva, Popitsch Niko, Knight Samantha J L, Keays David A, Quaghebeur Gerardine, Cox Helen, Cox Phillip, Balla Tamas, Taylor Jenny C, Kini Usha
Abstract excerpt
Polymicrogyria (PMG) is a structural brain abnormality involving the cerebral cortex that results from impaired neuronal migration and although several genes have been implicated, many cases remain unsolved. In this study, exome sequencing in a family where three fetuses had all been diagnosed with PMG and cerebellar hypoplasia allowed us to identify regions of the genome for which both chromosomes were shared...
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