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A Novel De Novo Mutation of the DHX30 Gene in a Patient With Neurodevelopmental Disorder, Severe Motor Impairment, and Absent Language (NEDMIAL)
Introduction: DExH-Box Helicase 30 (DHX30) is a gene that codes for proteins. It belongs to the class of RNA secondary structure unwinding helicases known as DExH-boxes. There have been numerous reports of pathogenic DHX30 variants. Most mutations, but not all, result in severe phenotypic abnormalit...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cureus
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9837457/ https://www.ncbi.nlm.nih.gov/pubmed/36643085 http://dx.doi.org/10.7759/cureus.33682 |