FKBP10 Variants: Differentiation Between Bruck Syndrome Type 1 And Osteogenesıs Imperfecta Type XI
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Biallelic FKBP10 variants cause autosomal recessive osteogenesis imperfecta(OI) type XI (OI-XI) and Bruck syndrome type 1 (BS-1), both characterized by bone fragility. However, BS-1 is additionally marked by joint contractures, leading to diagnostic overlap wi... ...
