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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...

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Detalles Bibliográficos
Autores principales: Vafaeie, Farzane, Alerasool, Masoome, Kaseb Mojaver, Nasrin, Mojarrad, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
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