Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases

High bone mass (HBM) can be an incidental clinical finding; however, monogenic HBM disorders (eg, LRP5 or SOST mutations) are rare. We aimed to determine to what extent HBM is explained by mutations in known HBM genes. A total of 258 unrelated HBM cases were identified from a review of 335,115 DXA s...

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Detaylı Bibliyografya
Yayımlandı:J Bone Miner Res
Asıl Yazarlar: Gregson, Celia L, Wheeler, Lawrie, Hardcastle, Sarah A, Appleton, Louise H, Addison, Kathryn A, Brugmans, Marieke, Clark, Graeme R, Ward, Kate A, Paggiosi, Margaret, Stone, Mike, Thomas, Joegi, Agarwal, Rohan, Poole, Kenneth ES, McCloskey, Eugene, Fraser, William D, Williams, Eleanor, Bullock, Alex N, Davey Smith, George, Brown, Matthew A, Tobias, Jon H, Duncan, Emma L
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2015
Konular:
Original Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4832273/
https://ncbi.nlm.nih.gov/pubmed/26348019
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.2706
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