A Novel Biallelic Variant in The SERPINH1 Gene in Two Siblings Diagnosed with Osteogenesis Imperfecta Type X: Evidence of Intrafamilial Clinical Variability
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Osteogenesis imperfecta (OI) is a genetically and phenotypically heterogeneous group of disorders primarily characterized by bone fragility, impaired growth, and skeletal deformities. Although OI was historically attributed to monoallelic pathogenic variants i... ...
