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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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Publisher copy:
10.1007/164_2020_350

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More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Women's & Reproductive Health
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Strategic
Role:
Author
ORCID:
0000-0002-1438-3220
Publisher:
Springer Publisher's website
Pages:
325-351
Series:
Handbook of Experimental Pharmacology
Series number:
262
Publication date:
2020-03-13
DOI:
EISBN:
9783030573782
EISSN:
1865-0325
ISSN:
0171-2004
Pmid:
32166388
ISBN:
9783030573775
Language:
English
Keywords:
Subtype:
Review
Pubs id:
1093670
Local pid:
pubs:1093670
Deposit date:
2021-03-18

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