title: 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.
authors.affiliation: Department of Endocrinology Sahlgrenska Universitetssjukhuset Gothenburg Sweden.
authors.forename: Laila
authors.initials: L
authors.lastname: Füchtbauer
authors.affiliation: Department of Clinical Genetics Odense University Hospital Odense Denmark.
authors.forename: Klaus
authors.initials: K
authors.lastname: Brusgaard
authors.affiliation: Pediatric Department Sygehus Sønderjylland Sønderborg Denmark.
authors.forename: Pål
authors.initials: P
authors.lastname: Ledaal
authors.affiliation: Department of Endocrinology M Odense University Hospital Odense Denmark.
authors.forename: Morten
authors.initials: M
authors.lastname: Frost
authors.affiliation: Department of Clinical Genetics Odense University Hospital Odense Denmark.
authors.forename: Anja L
authors.initials: AL
authors.lastname: Frederiksen
keywords: Bone mineral density; CYP27B1; HR‐pQCT; Pseudo‐vitamin D deficiency rickets; Vitamin D‐dependent rickets type 1