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

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. Adequat...

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Detalles Bibliográficos
Autores principales: Füchtbauer, Laila, Brusgaard, Klaus, Ledaal, Pål, Frost, Morten, Frederiksen, Anja L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4693699/
https://www.ncbi.nlm.nih.gov/pubmed/26734137
http://dx.doi.org/10.1002/ccr3.406
Descripción
Sumario: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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