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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...

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Vydáno v:Intractable Rare Dis Res
Hlavní autoři: Cabal-Herrera, Ana María, Saldarriaga-Gil, Wilmar, Salcedo-Arellano, Maria Jimena, Hagerman, Randi J
Médium: Artigo
Jazyk:Inglês
Vydáno: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2020
Témata:
On-line přístup: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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