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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Antonella Riva, Giulia Nobile, Thea Giacomini, Marzia Ognibene, Marcello Scala, Ganna Balagura, Francesca Madia, Andrea Accogli, Ferruccio Romano, Domenico Tortora, Mariasavina Severino, Paolo Scudieri, Simona Baldassari, Ilaria Musante, Paolo Uva, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Valeria Capra, Lino Nobili, Pasquale Striano, Maria Margherita Mancardi, Federico Zara, Michele Iacomino
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Frontiers Media S.A. 2022-04-01
श्रृंखला:Frontiers in Pediatrics
विषय:
epilepsy
Exome sequencing (ES)
WOREE syndrome
array-CGH analysis
WWOX gene
ऑनलाइन पहुंच:https://www.frontiersin.org/articles/10.3389/fped.2022.847549/full
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