Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient.

ABSTRACT: Using whole exome sequencing, we found a pathogenic variant in the EEF1A2 gene in a patient with a Rett syndrome-like (RTT-like) phenotype, further confirming the association between EEF1A2 and Rett syndrome RTT and RTT-like phenotypes.

SUBMITTER: Kaur S 

PROVIDER: S-EPMC6935606 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature