Article
Novel FKBP10 Mutation in Iranian Patients with Osteogenesis Imperfecta: Insights from Whole-Exome Sequencing to Molecular Dynamics.
Iranian biomedical journal - 1 Nov 2025
Hoseinbeyki Moslem, Moradifard Shirin, Mirkhani Fatemeh, Shariati Fatemeh Sadat, Ehsani Parastoo, Alaei Mohammad Reza, Ebrahimi-Rad Mina
Abstract excerpt
Background: Osteogenesis imperfecta is a rare hereditary disorder affecting bone and connective tissue. While most cases are linked to autosomal dominant mutations in the COL1A1 and COL1A2 genes, FKBP10 variants are associated with the autosomal recessive form of OI, type XI. The study represents the first cohort-based evaluation of the FKBP10 mutational spectrum in Iranian patients, leading to the discovery of a...
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