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Novel Mutation With Literature Review WW Domain-Containing Oxidoreductase (WWOX) Gene

Genetic alterations in the WW domain-containing oxidoreductase (WWOX) gene cause autosomal recessive developmental and epileptic encephalopathy, characterized by the onset of refractory seizures in infants, along with severe axial hypotonia and profoundly impaired psychomotor development. It has als...

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Detalles Bibliográficos
Autores principales: Sukkar, Ghassan, Alzahrani, Razan M, Altirkistani, Bsaim A, Al lohaibi, Rayan S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9193507/
https://www.ncbi.nlm.nih.gov/pubmed/35712340
http://dx.doi.org/10.7759/cureus.25003