Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient.
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ABSTRACT:
SUBMITTER: Kaur S
PROVIDER: S-EPMC6935606 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
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Whole exome sequencing reveals a de novo missense variant in <i>EEF1A2</i> in a Rett syndrome-like patient.
Kaur Simranpreet S Van Bergen Nicole J NJ Gold Wendy Anne WA Eggers Stefanie S Lunke Sebastian S White Susan M SM Ellaway Carolyn C Christodoulou John J
Clinical case reports 20191112 12
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. ...[more]
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