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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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| Publicado no: | Oxf Med Case Reports |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8143668/ https://ncbi.nlm.nih.gov/pubmed/34055363 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/omcr/omab027 |
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