Deletion of the gene encoding Sclerostin (Sost) causes a rare sclerosing bone dysplasia, sclerosteosis (OMIM ID 269500) in both humans and murine knockout models [30], [31], [32], [33]; a related disease, van Buchem's disease (OMIM ID 239100), is caused by a distal noncoding deletion that removes regulatory elements required for the transcriptional of the Sost gene in adult bone [32]. Here, SOST is linked to sclerosteosis.