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

Laila Füchtbauer; Klaus Brusgaard; Pål Ledaal; Morten Frost Munk Nielsen; Anja Lisbeth Frederiksen

doi:10.1002/ccr3.406

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

Laila Füchtbauer, Klaus Brusgaard, Pål Ledaal, Morten Frost Munk Nielsen, Anja Lisbeth Frederiksen

Sahlgrenska University Hospital

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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.

Original language	English
Journal	Clinical Case Reports
Volume	3
Issue number	12
Pages (from-to)	1012-1016
ISSN	2050-0904
DOIs	https://doi.org/10.1002/ccr3.406
Publication status	Published - Dec 2015

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10.1002/ccr3.406

Case reportFinal published version, 1.11 MBLicence: CC BY-NC

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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.",

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AU - Ledaal, Pål

AU - Nielsen, Morten Frost Munk

AU - Frederiksen, Anja Lisbeth

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AB - 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.

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DO - 10.1002/ccr3.406

M3 - Journal article

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JO - Clinical Case Reports

JF - Clinical Case Reports

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

Abstract

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