van Buchem's disease

Related Overviews


'van Buchem's disease' can also refer to...


More Like This

Show all results sharing this subject:

  • Medicine and Health


Show Summary Details

Quick Reference

A disorder (hyperostosis corticalis generalisata, hyperphosphataaemia tarda, leontiasis ossea) in which there is excessive bone growth, caused by a 52-kb deletion ~35 kb downstream of the SOST gene that encodes sclerostin, a bone morphogenic protein (BMP) antagonist. The deletion apparently removes a SOST-specific regulatory element and down-regulation of sclerostin production.

Subjects: Medicine and Health.

Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.