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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Publicat a:PLoS Genet
Autors principals: Besterman, Aaron D., Althoff, Thorsten, Elfferich, Peter, Gutierrez-Mejia, Irma, Sadik, Joshua, Bernstein, Jonathan A., van Ierland, Yvette, Kattentidt-Mouravieva, Anja A., Nellist, Mark, Abramson, Jeff, Martinez-Agosto, Julian A.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2021
Matèries:
Research Article
Accés en línia: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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