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CYP3A4 mutation causes vitamin D-dependent rickets type 3

Abstract:

Genetic forms of vitamin D-dependent rickets (VDDRs) are due to mutations impairing activation of vitamin D or decreasing vitamin D receptor responsiveness. Here we describe two unrelated patients with early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to parent and activated forms of vitamin D. Neither patient had a mutation in any genes known to cause VDDR; however, using whole exome sequencing...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1172/jci98680

Authors


Roizen, JD More by this author
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ORCID:
0000-0002-2265-6727
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDORMS
ORCID:
0000-0001-7985-0048
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Publisher:
American Society for Clinical Investigation Publisher's website
Journal:
The Journal of clinical investigation Journal website
Volume:
128
Issue:
5
Pages:
1913-1918
Publication date:
2018-02-20
Acceptance date:
2018-02-13
DOI:
EISSN:
1558-8238
ISSN:
0021-9738
Pubs id:
pubs:834026
URN:
uri:9c31ef1c-942f-4b19-9dfa-8155d99e1e98
UUID:
uuid:9c31ef1c-942f-4b19-9dfa-8155d99e1e98
Local pid:
pubs:834026
Language:
English
Keywords:

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