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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Bibliografiska uppgifter
I publikationen:Intractable Rare Dis Res
Huvudupphovsmän: Cabal-Herrera, Ana María, Saldarriaga-Gil, Wilmar, Salcedo-Arellano, Maria Jimena, Hagerman, Randi J
Materialtyp: Artigo
Språk:Inglês
Publicerad: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2020
Ämnen:
Case Report
Länkar: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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