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

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

Abstract 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...

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Main Authors: Emma K. Baker, Marta Arpone, Solange Aliaga Vera, Lesley Bretherton, Alexandra Ure, Claudine M. Kraan, Minh Bui, Ling Ling, David Francis, Matthew F. Hunter, Justine Elliott, Carolyn Rogers, Michael J. Field, Jonathan Cohen, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Format: Article
Language:English
Published: BMC 2019-12-01
Series:Journal of Neurodevelopmental Disorders
Subjects:
Fragile X syndrome
Mosaicism
Autism spectrum disorder
Intellectual functioning
Behaviour
Phenotype
Online Access:https://doi.org/10.1186/s11689-019-9288-7

Internet

https://doi.org/10.1186/s11689-019-9288-7

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