Iranian biomedical journalHumansOsteogenesis ImperfectaTacrolimus Binding ProteinsIranExome Sequencing
Novel FKBP10 Mutation in Iranian Patients with Osteogenesis Imperfecta: Insights from Whole-Exome Sequencing to Molecular Dynamics.
Moslem Hoseinbeyki, Shirin Moradifard, Fatemeh Mirkhani, Fatemeh Sadat Shariati, Parastoo Ehsani, Mohammad Reza Alaei, Mina Ebrahimi-Rad
Published: 202510.61882/ibj.5278
Abstract
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 rece…
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