A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

The genetic etiology of intellectual disability remains elusive in almost half of all affected individuals. Within the Solve-RD consortium, systematic re-analysis of whole exome sequencing (WES) data from unresolved cases with (syndromic) intellectual disability (n = 1,472 probands) was performed. T...

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Detalles Bibliográficos
Autores principales: de Boer, Elke, Ockeloen, Charlotte W., Matalonga, Leslie, Horvath, Rita, Rodenburg, Richard J., Coenen, Marieke J. H., Janssen, Mirian, Henssen, Dylan, Gilissen, Christian, Steyaert, Wouter, Paramonov, Ida, Trimouille, Aurélien, Kleefstra, Tjitske, Verloes, Alain, Vissers, Lisenka E. L. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440635/
https://www.ncbi.nlm.nih.gov/pubmed/34075211
http://dx.doi.org/10.1038/s41431-021-00900-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440635/
https://www.ncbi.nlm.nih.gov/pubmed/34075211
http://dx.doi.org/10.1038/s41431-021-00900-2

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