A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome
BackgroundWOREE syndrome is a rare neurodevelopmental disorder featuring drug-resistant epilepsy and global developmental delay. The disease, caused by biallelic pathogenic variants in the WWOX gene, usually leads to severe disability or death within the first years of life. Clinicians have become m...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2022-04-01
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Series: | Frontiers in Pediatrics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.847549/full |