ba0003oc4.2 | Genetics of bone disease | ECTS2014
, Kabir D
, Wilson JF
, Ralston SH
Background: LRP4 gene encodes a member of the LDL receptor gene family, expressed by osteoblasts, which negatively regulates Wnt/β-catenin signalling by potentiating the inhibitory effect of sclerostin on LRP5 signalling. Previously, missense mutations of LRP4 have been described in patients with the phenotype of sclerosteosis, a disease associated with high bone mass and bone overgrowth. Here we investigated the hypothesis the LRP4 mut...