Article
An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes.
European journal of human genetics : EJHG - 1 Jun 2013
Addis Maria, Meloni Cristiana, Tosetto Enrica, Ceol Monica, Cristofaro Rosalba, Melis Maria Antonietta, Vercelloni Paolo, Del Prete Dorella, Marra Giuseppina, Anglani Franca
Abstract excerpt
Dent's disease is an X-linked renal tubulopathy caused by mutations mainly affecting the CLCN5 gene. Defects in the OCRL gene, which is usually mutated in patients with Lowe syndrome, have been shown to lead to a Dent-like phenotype called Dent disease 2. However, about 20% of patients with Dent'...
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