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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:J Bone Miner Res
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley and Sons Inc. 2015
Aiheet:
Original Articles
Linkit: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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