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    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)