Case report: vitamin D-dependent rickets type 1 caused by a novel CYP27B1 mutation.

ABSTRACT: 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.

SUBMITTER: Fuchtbauer L 

PROVIDER: S-EPMC4693699 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature