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Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
Kausar M, Ain NU, Hayat F, Fatima H, Azim S, Ullah H, Mushtaq M, Khalid S, Hussain S, Naz S, Janjua J, Amjad SB, Baig RM, Makitie O, Qamar R, Ikegawa S, Gen N, Khor CC, Foo JN, Siddiqi S. Kausar M, et al. Among authors: makitie o. BMC Musculoskelet Disord. 2022 Aug 30;23(1):818. doi: 10.1186/s12891-022-05719-6. BMC Musculoskelet Disord. 2022. PMID: 36042462 Free PMC article.
Shwachman-Diamond syndrome is associated with low-turnover osteoporosis.
Toiviainen-Salo S, Mäyränpää MK, Durie PR, Richards N, Grynpas M, Ellis L, Ikegawa S, Cole WG, Rommens J, Marttinen E, Savilahti E, Mäkitie O. Toiviainen-Salo S, et al. Among authors: makitie o. Bone. 2007 Dec;41(6):965-72. doi: 10.1016/j.bone.2007.08.035. Epub 2007 Sep 5. Bone. 2007. PMID: 17920346
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.
Chang HR, Cho SY, Lee JH, Lee E, Seo J, Lee HR, Cavalcanti DP, Mäkitie O, Valta H, Girisha KM, Lee C, Neethukrishna K, Bhavani GS, Shukla A, Nampoothiri S, Phadke SR, Park MJ, Ikegawa S, Wang Z, Higgs MR, Stewart GS, Jung E, Lee MS, Park JH, Lee EA, Kim H, Myung K, Jeon W, Lee K, Kim D, Kim OH, Choi M, Lee HW, Kim Y, Cho TJ. Chang HR, et al. Among authors: makitie o. Am J Hum Genet. 2019 Mar 7;104(3):439-453. doi: 10.1016/j.ajhg.2019.01.009. Epub 2019 Feb 14. Am J Hum Genet. 2019. PMID: 30773278 Free PMC article.
Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.
Pekkinen M, Terhal PA, Botto LD, Henning P, Mäkitie RE, Roschger P, Jain A, Kol M, Kjellberg MA, Paschalis EP, van Gassen K, Murray M, Bayrak-Toydemir P, Magnusson MK, Jans J, Kausar M, Carey JC, Somerharju P, Lerner UH, Olkkonen VM, Klaushofer K, Holthuis JC, Mäkitie O. Pekkinen M, et al. Among authors: makitie re, makitie o. JCI Insight. 2019 Apr 4;4(7):e126180. doi: 10.1172/jci.insight.126180. eCollection 2019 Apr 4. JCI Insight. 2019. PMID: 30779713 Free PMC article.
389 results