Comparison of Genetic Variants and Manifestations of OTUD6B-Related Disorder: The First Mexican Case

The intellectual disability syndrome characterized by seizures and dysmorphic features was initially described in 2017 and was associated with genetic variants in the OTUD6B gene, identified by exome sequencing (ES) in a large cohort. This multisystem disorder primarily affects the central nervous s...

Descripción completa

Detalles Bibliográficos
Autores principales: Romero-Ibarguengoitia, Maria Elena, Cantú-Reyna, Consuelo, Gutierrez-González, Dalia, Cruz-Camino, Héctor, González-Cantú, Arnulfo, Sanz Sánchez, Miguel Angel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7493228/
https://www.ncbi.nlm.nih.gov/pubmed/32924626
http://dx.doi.org/10.1177/2324709620957777

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7493228/
https://www.ncbi.nlm.nih.gov/pubmed/32924626
http://dx.doi.org/10.1177/2324709620957777

Ejemplares similares