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CRTAP variants in early-onset osteoporosis and recurrent fractures.
Costantini A, Vuorimies I, Mäkitie R, Mäyränpää MK, Becker J, Pekkinen M, Valta H, Netzer C, Kämpe A, Taylan F, Jiao H, Mäkitie O. Costantini A, et al. Am J Med Genet A. 2017 Mar;173(3):806-808. doi: 10.1002/ajmg.a.38065. Epub 2016 Nov 30. Am J Med Genet A. 2017. PMID: 27901313 No abstract available.
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.
Kämpe AJ, Costantini A, Levy-Shraga Y, Zeitlin L, Roschger P, Taylan F, Lindstrand A, Paschalis EP, Gamsjaeger S, Raas-Rothschild A, Hövel M, Jiao H, Klaushofer K, Grasemann C, Mäkitie O. Kämpe AJ, et al. Among authors: costantini a. J Bone Miner Res. 2017 Dec;32(12):2394-2404. doi: 10.1002/jbmr.3233. Epub 2017 Sep 6. J Bone Miner Res. 2017. PMID: 28777485 Free article.
High bone mass due to novel LRP5 and AMER1 mutations.
Costantini A, Kekäläinen P, Mäkitie RE, Mäkitie O. Costantini A, et al. Eur J Med Genet. 2017 Dec;60(12):675-679. doi: 10.1016/j.ejmg.2017.09.001. Epub 2017 Sep 8. Eur J Med Genet. 2017. PMID: 28893644
667 results