Article

Clinical and genetic landscape of Bruck syndrome in the Indian population

2024-06-04

Abstract excerpt

<title>Abstract</title> <p>Background Bruck syndrome (BS) is a rare form of Osteogenesis imperfecta (OI) with congenital large joint contractures and bone fragility fractures. Evaluation of phenotypic and genotypic profiles of 14 children with <italic>FKBP10</italic> and <italic>PLOD2</italic> gene variants causing Bruck syndrome (BS) and highlighting the severe deformities in response to poor surgical treatment...

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Literature Corpus work: 880dac74-13d3-57a5-93c4-e6a35af655ce
DOI: 10.21203/rs.3.rs-4379907/v1

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