_:vb50945494 . _:vb50945494 . _:vb50945494 "A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in CLCN5 on chromosome Xp11.23."^^ . _:vb50945494 . _:vb50945494 "url:https://www.ncbi.nlm.nih.gov/pubmed/8559248"^^ . _:vb50945494 "url:https://www.ncbi.nlm.nih.gov/pubmed/15558518"^^ . _:vb50945494 . _:vb50945494 .