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Renal manifestations of Dent disease and Lowe syndrome

✍ Scribed by Hee Yeon Cho; Bum Hee Lee; Hyun Jin Choi; Il Soo Ha; Yong Choi; Hae Il Cheong

Book ID
106160846
Publisher
Springer
Year
2007
Tongue
English
Weight
131 KB
Volume
23
Category
Article
ISSN
0931-041X

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Mutations of OCRL1 are associated with both the Lowe oculocerebrorenal syndrome, a multisystemic and Dent-2 disease, a renal tubulopathy. We have identified a mutation in 130 Lowe syndrome families and 6 affected by Dent-2 disease with 51 of these mutations being novel. No founding effect was eviden