Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p167 | (1) | ICCBH2013

Recurrent fractures and low bone mass in a patient with new mutation of LRP5 gene

Rusinska Agnieszka , Borowiec Maciej , Mlynarski Wojciech , Antosik Karolina , Michalus Izabela , Golec Joanna , Chlebna-Sokol Danuta

In recent years, the important role in bone remodelling Wnt/β-catenin pathway is highlighted. Key receptor of this pathway is LDL receptor-related protein 5 (LRP5). It was demonstrated in adults that polymorphism in LRP5 gene was associated with bone mineral density and fracture risk. So far no such studies were conducted in children.The aim of the study was the analysis of LRP5 and COL1A1 genes in a patient with r...