DEPDC5 variant in focal cortical dysplasia: a case report and review of the literature

Germline and 2-hit brain somatic variants in DEPDC5 gene, a negative regulator of the mammalian target of rapamycin (mTOR) pathway, are increasingly recognized in patients with focal cortical dysplasia (FCD). Next-generation targeted sequencing identified a heterozygous germline variant in DEPDC5 ge...

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Detalles Bibliográficos
Autores principales: Jesus-Ribeiro, Joana, Pereira, Cristina, Robalo, Conceição, Pereira, Daniela J, Duro, Diana, Ramos, Fabiana, Freire, António, Melo, Joana B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8143668/
https://www.ncbi.nlm.nih.gov/pubmed/34055363
http://dx.doi.org/10.1093/omcr/omab027

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8143668/
https://www.ncbi.nlm.nih.gov/pubmed/34055363
http://dx.doi.org/10.1093/omcr/omab027

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