A novel frameshift deletion in PLS3 causing severe primary osteoporosis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s10038-018-0472-5.pdf
Reference16 articles.
1. Van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, et al. PLS3 mutations in X-linked osteoporosis with fractures. N Engl J Med. 2013;369:1529–36.
2. Kampe AJ, Makitie RE, Makitie O. New genetic forms of childhood-onset primary osteoporosis. Horm Res Paediatr. 2015;84:361–9.
3. Makitie RE, Kampe AJ, Taylan F, Makitie O. Recent discoveries in monogenic disorders of childhood bone fragility. Curr Osteoporos Rep. 2017;15:303–10.
4. Fahiminiya S, Majewski J, Al-Jallad H, Moffatt P, Mort J, Glorieux FH, et al. Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics. J Bone Mineral Res. 2014;29:1805–14.
5. Kampe AJ, Costantini A, Levy-Shraga Y, Zeitlin L, Roschger P, Taylan F et al. PLS3 deletions lead to severe spinal osteoporosis and disturbed bone matrix mineralization. J Bone Miner Res. 2017;32:2394–2404.
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