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The syndromic status of sclerosteosis and van Buchem disease

✍ Scribed by P. Beighton; A. Barnard; H. Hamersma; A. van der Wouden


Book ID
119839549
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
874 KB
Volume
25
Category
Article
ISSN
0009-9163

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## Abstract Sclerosteosis is a rare bone sclerosing dysplasia, caused by loss‐of‐function mutations in the __SOST__ gene, encoding sclerostin, a negative regulator of bone formation. The purpose of this study was to determine how the lack of sclerostin affects bone turnover in patients with scleros