Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome

BACKGROUND: Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM: CGG ≥ 200), increased DNA methylation of the FMR1 promoter and silencing of the gene. Mosaicism for presence of cell...

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Foilsithe in:J Neurodev Disord
Main Authors: Baker, Emma K., Arpone, Marta, Vera, Solange Aliaga, Bretherton, Lesley, Ure, Alexandra, Kraan, Claudine M., Bui, Minh, Ling, Ling, Francis, David, Hunter, Matthew F., Elliott, Justine, Rogers, Carolyn, Field, Michael J., Cohen, Jonathan, Maria, Lorena Santa, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M., Amor, David J., Godler, David E.
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2019
Ábhair:
Research
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6933737/
https://ncbi.nlm.nih.gov/pubmed/31878865
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s11689-019-9288-7
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