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

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.

Detalles Bibliográficos
Autores principales: Kaur, Simranpreet, Van Bergen, Nicole J., Gold, Wendy Anne, Eggers, Stefanie, Lunke, Sebastian, White, Susan M., Ellaway, Carolyn, Christodoulou, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935606/
https://www.ncbi.nlm.nih.gov/pubmed/31893083
http://dx.doi.org/10.1002/ccr3.2511
Descripción
Sumario: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.

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