Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype

Fragile X syndrome (FXS), is an X-linked inherited genetic disease. FXS is the leading cause of inherited intellectual disability and autism in the world. Those affected are characterized by intellectual disability, language deficit, typical facies, and macroorchidism. Alterations in the FMR1 gene h...

Descripción completa

Detalles Bibliográficos
Autores principales: Payán-Gómez, César, Ramirez-Cheyne, Julian, Saldarriaga, Wilmar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8273740/
https://www.ncbi.nlm.nih.gov/pubmed/34262328
http://dx.doi.org/10.2147/TACG.S265835

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8273740/
https://www.ncbi.nlm.nih.gov/pubmed/34262328
http://dx.doi.org/10.2147/TACG.S265835

Ejemplares similares