Case report: vitamin D-dependent rickets type 1 caused by a novel CYP27B1 mutation.
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SUBMITTER: Fuchtbauer L
PROVIDER: S-EPMC4693699 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
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Case report: vitamin D-dependent rickets type 1 caused by a novel CYP27B1 mutation.
Füchtbauer Laila L Brusgaard Klaus K Ledaal Pål P Frost Morten M Frederiksen Anja L AL
Clinical case reports 20151105 12
Vitamin D-dependent rickets type 1 VDDR-1 is a recessive inherited disorder with impaired activation of vitamin D, caused by mutations in CYP27B1. We present long-time follow-up of a case with a novel mutation including high-resolution peripheral quantitative computed tomography of the bone. Adequate treatment resulted in a normalized phenotype. ...[more]
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