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    Article

    Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis

    Nephropathic cystinosis is an autosomal recessive disease caused by a mutation in the CTNS gene which encodes cystinosin, a lysosomal cystine transporter. The spectrum of mutations in the CTNS gene is not well de...

    Mariem El Younsi, Médiha Trabelsi, Sandra Ben Youssef… in Pediatric Nephrology (2023)

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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)