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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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Dades bibliogràfiques
Publicat a:Genes (Basel)
Autors principals: Kengne Kamga, Karen, Nguefack, Séraphin, Minka, Khuthala, Wonkam Tingang, Edmond, Esterhuizen, Alina, Nchangwi Munung, Syntia, De Vries, Jantina, Wonkam, Ambroise
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7074341/
https://ncbi.nlm.nih.gov/pubmed/32012997
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11020136
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