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hnRNPH2 gain-of-function mutations reveal therapeutic strategies and a role for RNA granules in neurodevelopmental disorders
hnRNPH2-related neurodevelopmental disorder (NDD) is caused by mutations in the HNRNPH2 gene and is associated with substantial challenges, including developmental delay, intellectual disability, growth delay, and epilepsy. There is currently no therapeutic intervention available to those with hnRNP...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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American Society for Clinical Investigation
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10348753/ https://www.ncbi.nlm.nih.gov/pubmed/37463443 http://dx.doi.org/10.1172/JCI171499 |