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These case report discuss two children with Nephrocalcinosis and disordered calcium metabolism and an Adult with SHORT syndrome
Abstract:
Reports of SHORT syndrome have, to date, focused on the clinical features which lie at the core of the diagnosis but there has been little by way of report of long-term outcome, either in terms of medical complications or of intellectual development. We now report two children in whom nephrocalcinosis has developed and a third, adult, with similar findings. It may be that clinicians more...
International Classification:
Other - Nephrocalcinosis
Categories:
nephrocalcinosis
Geography:
Republic of Ireland
Am J Med Genet A,
Vol: 146A Page: 1296-8 May 2008
W. Reardon; I. K. Temple
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