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机译:Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion
Univ Genoa, Div Nephrol Dialysis & Transplantat, Dept Internal Med, Genoa, Italy;
IRCCS Ist Giannina Gaslini, UOC Genet Med, Genoa, Italy;
IRCCS Ist Giannina Gaslini, Div Nephrol Dialysis & Transplantat, Genoa, ItalyIRCCS Ist Giannina Gaslini Genova, Lab Genet Umana, Genoa, Italy;
Dent disease; Hypophosphatemic rickets; CLCN5; SHROOMS4; USP27X;