Sclerostin deficiency in humans.
review · Level V
Where this comes from
- Record sourced from PubMed, PMID 27742500.
- Also identified by DOI 10.1016/j.bone.2016.10.010.
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Abstract
Sclerosteosis and van Buchem disease are two rare bone sclerosing dysplasias caused by genetic defects in the synthesis of sclerostin. In this article we review the demographic, clinical, biochemical, radiological, and histological characteristics of patients with sclerosteosis and van Buchem disease that led to a better understanding of the role of sclerostin in bone metabolism in humans and we discuss the relevance of these findings for the development of new therapeutics for the treatment of patients with osteoporosis.
Medical subject headings
- Bone Morphogenetic Proteins