A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne–Kalscheuer syndrome

Tonne–Kalscheuer syndrome (TOKAS) is an X-linked intellectual disability syndrome associated with variable clinical features including craniofacial abnormalities, hypogenitalism and diaphragmatic hernia. TOKAS is caused exclusively by variants in the gene encoding the E3 ubiquitin ligase gene RLIM,...

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Detalles Bibliográficos
Autores principales: Bustos, Francisco, Espejo-Serrano, Carmen, Segarra-Fas, Anna, Toth, Rachel, Eaton, Alison J., Kernohan, Kristin D., Wilson, Meredith J., Riley, Lisa G., Findlay, Greg M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100121/
https://www.ncbi.nlm.nih.gov/pubmed/33953269
http://dx.doi.org/10.1038/s41598-021-88911-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100121/
https://www.ncbi.nlm.nih.gov/pubmed/33953269
http://dx.doi.org/10.1038/s41598-021-88911-3

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