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...

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Detalles Bibliográficos
Autores principales: Alomaim, Mohammad M, Mushiba, Aziza M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
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

Internet

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

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