A new LRP6 variant and Camurati-Engelmann-like disease.

Abstract excerpt

INTRODUCTION: Camurati-Engelmann disease is a rare autosomal dominant bone dysplasia belonging to the group of craniotubular hyperostoses. Genetic analysis classically shows mutation on TGFβ1 gene. CASE REPORT: A young woman was hospitalized with intense pain in lower limbs, associated to radiographic hyperostosis and sclerosis of the long bones. RESULTS: Mutation on LRP6 has recently been associated to high bone...

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