A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome

BACKGROUND: WOREE 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...

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Detalles Bibliográficos
Autores principales: Riva, Antonella, Nobile, Giulia, Giacomini, Thea, Ognibene, Marzia, Scala, Marcello, Balagura, Ganna, Madia, Francesca, Accogli, Andrea, Romano, Ferruccio, Tortora, Domenico, Severino, Mariasavina, Scudieri, Paolo, Baldassari, Simona, Musante, Ilaria, Uva, Paolo, Salpietro, Vincenzo, Torella, Annalaura, Nigro, Vincenzo, Capra, Valeria, Nobili, Lino, Striano, Pasquale, Mancardi, Maria Margherita, Zara, Federico, Iacomino, Michele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9100683/
https://www.ncbi.nlm.nih.gov/pubmed/35573960
http://dx.doi.org/10.3389/fped.2022.847549

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