Journal article : Review
Genetics of skeletal disorders
- Abstract:
-
Bone and mineral diseases encompass a variety of conditions that involve altered skeletal homeostasis and are frequently associated with changes in circulating calcium, phosphate, or vitamin D metabolites. These disorders often have a genetic etiology and comprise monogenic disorders caused by a single-gene mutation, which may be germline or somatic, or an oligogenic or polygenic condition involving multiple genetic variants. Single-gene mutations causing Mendelian diseases are usually highly...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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Authors
Bibliographic Details
- Publisher:
- Springer Publisher's website
- Series:
- Handbook of Experimental Pharmacology
- Series number:
- 262
- Pages:
- 325-351
- Publication date:
- 2020-03-13
- DOI:
- EISSN:
-
1865-0325
- ISSN:
-
0171-2004
- Pmid:
-
32166388
- EISBN:
- 9783030573782
- ISBN:
- 9783030573775
Item Description
- Language:
- English
- Keywords:
- Subtype:
- Review
- Pubs id:
-
1093670
- Local pid:
- pubs:1093670
- Deposit date:
- 2021-03-18
Terms of use
- Copyright holder:
- Springer Nature
- Copyright date:
- 2020
- Rights statement:
- © Springer Nature Switzerland AG 2020.
- Notes:
- This is the accepted manuscript version of the article. The final version is available online from Springer at: https://doi.org/10.1007/164_2020_350
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