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Fragile X associated neuropsychiatric disorders in a male without FXTAS
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder. In most cases, it is due to an expansion of the CGG triplet to more than 200 repeats within the promoter region of the FMR1 gene. In the premutation (PM) the trinucleotide is expanded...
Guardat en:
| Publicat a: | Intractable Rare Dis Res |
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| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7263992/ https://ncbi.nlm.nih.gov/pubmed/32494560 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2020.01028 |
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