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Nail Patella Syndrome Revisited: 50 Years After Linkage

6 May 2005

Abstract excerpt

Nail Patella Syndrome (NPS; OMIM #161200) is a pleiotropic condition, with a classical clinical tetrad of involvement of the nails, knees, elbows and the presence of iliac horns. Kidney disease and glaucoma are now recognised as part of the syndrome. Fifty years ago, James Renwick chose NPS to develop methods of linkage analysis in humans and revealed the third linkage group identified in man--that between NPS...

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PMID: 15996164
DOI: 10.1111/j.1529-8817.2005.00191.x

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