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Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity
Smith-Kingsmore syndrome (SKS) is a rare neurodevelopmental disorder characterized by macrocephaly/megalencephaly, developmental delay, intellectual disability, hypotonia, and seizures. It is caused by dominant missense mutations in MTOR. The pathogenicity of novel variants in MTOR in patients with...
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| 出版年: | PLoS Genet |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Public Library of Science
2021
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8279410/ https://ncbi.nlm.nih.gov/pubmed/34197453 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1009651 |
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