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

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.

Bibliographic Details
Main Authors: Simranpreet Kaur, Nicole J. Van Bergen, Wendy Anne Gold, Stefanie Eggers, Sebastian Lunke, Susan M. White, Carolyn Ellaway, John Christodoulou
Format: Article
Language:English
Published: Wiley 2019-12-01
Series:Clinical Case Reports
Subjects:
EEF1A2
elongation factor‐1
intellectual disability
mutation
Rett syndrome
Online Access:https://doi.org/10.1002/ccr3.2511

Internet

https://doi.org/10.1002/ccr3.2511

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