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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:J Investig Med High Impact Case Rep
Main Authors: Romero-Ibarguengoitia, Maria Elena, Cantú-Reyna, Consuelo, Gutierrez-González, Dalia, Cruz-Camino, Héctor, González-Cantú, Arnulfo, Sanz Sánchez, Miguel Angel
Format: Artigo
Sprog:Inglês
Udgivet: SAGE Publications 2020
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7493228/
https://ncbi.nlm.nih.gov/pubmed/32924626
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2324709620957777
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker