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    Article

    Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family

    Studies of X-linked pedigrees were the first to identify genes implicated in intellectual disability (ID) and autism spectrum disorder (ASD). However, some pedigrees present a huge clinical variability between...

    Saida Lahbib, Mediha Trabelsi, Hamza Dallali, Rania Sakka… in Molecular Biology Reports (2019)

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    Article

    Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology

    Autism spectrum disorder (ASD) is a set of neurodevelopmental conditions characterized by early-onset difficulties in social communication and unusually restricted, repetitive behavior and interests. Parental ...

    Saida Lahbib, Claire S. Leblond, Mariem Hamza… in Journal of Applied Genetics (2019)