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  Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2

Butscheidt, S., Delsmann, A., Rolvien, T., Barvencik, F., Al-Bughaili, M., Mundlos, S., et al. (2018). Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2. Osteoporosis International, 29(7), 1643-1651. doi:10.1007/s00198-018-4499-4.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0003-5CC3-A Version Permalink: http://hdl.handle.net/21.11116/0000-0003-5CC4-9
Genre: Journal Article

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© International Osteoporosis Foundation and National Osteoporosis Foundation 2018
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 Creators:
Butscheidt, Sebastian, Author
Delsmann, A., Author
Rolvien, Tim, Author
Barvencik, Florian, Author
Al-Bughaili, M., Author
Mundlos, Stefan1, 2, 3, Author              
Schinke, T., Author
Amling, M., Author
Kornak, Uwe1, 2, 3, Author              
Oheim, Ralf, Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany, ou_persistent22              
3Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Berlin, Germany, ou_persistent22              

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Free keywords: Early-onset osteoporosis; Genetics; Monogenic bone disorders; Pregnancy-associated osteoporosis; Treatment
 Abstract: Pregnancy was found to be a skeletal risk factor promoting the initial onset of previously unrecognized monogenic bone disorders, thus explaining a proportion of cases with pregnancy-associated osteoporosis. Therapeutic measures should focus in particular on the normalization of the disturbed calcium homeostasis in order to enable the partial skeletal recovery.

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Language(s): eng - English
 Dates: 2018-03-292018-07
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1007/s00198-018-4499-4
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Title: Osteoporosis International
  Other : Osteoporosis Int.
Source Genre: Journal
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Publ. Info: London, UK : Springer
Pages: 9 Volume / Issue: 29 (7) Sequence Number: - Start / End Page: 1643 - 1651 Identifier: ISSN: 0937-941X
CoNE: https://pure.mpg.de/cone/journals/resource/954925571870