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Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa)

Fragile X Syndrome (FXS), an X-linked dominant monogenic condition, is the main genetic cause of intellectual disability (ID) and autism spectrum disorder (ASD). FXS is associated with an expansion of CGG repeat sequence in the Fragile X Mental Retardation gene 1 (FMR1) on chromosome X. Following a...

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Detalles Bibliográficos
Autores principales: Kengne Kamga, Karen, Nguefack, Séraphin, Minka, Khuthala, Wonkam Tingang, Edmond, Esterhuizen, Alina, Nchangwi Munung, Syntia, De Vries, Jantina, Wonkam, Ambroise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7074341/
https://www.ncbi.nlm.nih.gov/pubmed/32012997
http://dx.doi.org/10.3390/genes11020136