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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Hum Mol Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2015
Soggetti:
Articles
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi