Sclerostin deficiency in humans
Copyright policy )Sclerostin deficiency in humans
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.
- Leiden University Medical Center Netherlands
Van Buchem disease, Genetic Markers, Sclerostin, Bone resorption, Hyperostosis, Osteochondrodysplasias, Bone and Bones, Bone Density, Bone formation, Bone Morphogenetic Proteins, Humans, Syndactyly, Sclerosteosis, Biomarkers, Adaptor Proteins, Signal Transducing
Van Buchem disease, Genetic Markers, Sclerostin, Bone resorption, Hyperostosis, Osteochondrodysplasias, Bone and Bones, Bone Density, Bone formation, Bone Morphogenetic Proteins, Humans, Syndactyly, Sclerosteosis, Biomarkers, Adaptor Proteins, Signal Transducing
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