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Article

A novel mutation in collagen gene COL1A2 associated with transient regional osteoporosis.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Jan 2022

Varenna M, Crotti C, Bonati M T, Zucchi F, Gallazzi M, Caporali R

Abstract excerpt

A young man was diagnosed with transient regional osteoporosis (TRO). The genetic analysis revealed a novel de novo likely pathogenic variant in COL1A2 gene. Our hypothesis is that TRO may be a possible clinical manifestation of osteogenesis imperfecta due to a reduced bone mass and an impaired trabecular mechanical competence. INTRODUCTION: Transient regional osteoporosis (TRO) is a disease characterized by...

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PMID: 34463844
DOI: 10.1007/s00198-021-06135-7

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