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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. Among authors: kampe a. 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. 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.
A novel frameshift deletion in PLS3 causing severe primary osteoporosis.
Costantini A, Krallis PΝ, Kämpe A, Karavitakis EM, Taylan F, Mäkitie O, Doulgeraki A. Costantini A, et al. Among authors: kampe a. J Hum Genet. 2018 Aug;63(8):923-926. doi: 10.1038/s10038-018-0472-5. Epub 2018 Jun 8. J Hum Genet. 2018. PMID: 29884797
42 results