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van Buchem's disease


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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.

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