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

Abstract:

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 British families revealed a greater disease severity in males and an absence of male to male transmission. This suggested an X-linked inheritance and we investigated this further by linkage studies in 33 m...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/2.12.2129

Authors


Wooding, C More by this author
Norden, AG More by this author
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Journal:
Human molecular genetics
Volume:
2
Issue:
12
Pages:
2129-2134
Publication date:
1993-12-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:035ec6f2-06ce-4888-890c-49859455e9bd
Source identifiers:
21590
Local pid:
pubs:21590

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