Article
Dent-2 disease: a mild variant of Lowe syndrome.
The Journal of pediatrics - 1 Jul 2009
Bökenkamp Arend, Böckenhauer Detlef, Cheong Hae Il, Hoppe Bernd, Tasic Velibor, Unwin Robert, Ludwig Michael
Abstract excerpt
OBJECTIVE: To compare the renal and extra-renal phenotypes of patients classified as having Dent disease, Dent-2 disease, or Lowe syndrome. STUDY DESIGN: Chart review of data from 93 patients with identified voltage-gated chloride channel and chloride/proton antiporter 5 gene and oculo-cerebro-renal syndrome of Lowe gene mutations observed by the authors, complemented with published data. RESULTS: There was a...
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