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

• Main Authors: Maria Elena Romero-Ibarguengoitia MD, MS, PhD (Author), Consuelo Cantú-Reyna MD, MS (Author), Dalia Gutierrez-González MD (Author), Héctor Cruz-Camino BS (Author), Arnulfo González-Cantú MD, MSC (Author), Miguel Angel Sanz Sánchez MD (Author)
• Formato: Livro
• Publicado em: SAGE Publishing, 2020-09-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...