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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2022
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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 |