Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

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...

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Bibliografski detalji
Izdano u:Hum Mol Genet
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2015
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Articles
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4459391/
https://ncbi.nlm.nih.gov/pubmed/25855803
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv117
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