" /> Nephropathic Cystinosis - CISMeF





Preferred Label : Nephropathic Cystinosis;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.;

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27/07/2025


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