Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.

Dent's disease is a familial proximal renal tubular disorder which is associated with low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, kidney stones and renal failure. The mode of inheritance and the primary defect for this disorder are unknown. An analysis of 5 unrelated Bri...

Ausführliche Beschreibung

Bibliographische Detailangaben
Hauptverfasser: Pook, M, Wrong, O, Wooding, C, Norden, A, Feest, T, Thakker, R
Format: Journal article
Sprache:English
Veröffentlicht: 1993