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Fragile X Syndrome in a Female With Homozygous Full-Mutation Alleles of the FMR1 Gene
Fragile X syndrome (FXS) has been reported as the leading cause of mental retardation (MR) that predominantly involves males compared to females. An over-expansion of CGG repeats in the 5′ untranslated region of the FMR1 gene plays the primary role in this disease. In this study, we encountered a ho...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8357243/ https://www.ncbi.nlm.nih.gov/pubmed/34395123 http://dx.doi.org/10.7759/cureus.16340 |