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Fabry disease and nephrogenic diabetes insipidus

✍ Scribed by Philip Wornell; Sarah Dyack; John Crocker; Weiming Yu; Philip Acott


Publisher
Springer
Year
2006
Tongue
English
Weight
79 KB
Volume
21
Category
Article
ISSN
0931-041X

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We describe a man with the fra(X) syndrome and nephrogenic diabetes insipidus. The disease loci for both conditions are in the region Xq27.3-q28. This is the first report of the fra(X) syndrome associated with another X-linked disorder. Analysis of DNA markers suggested that the association in this