Rare SERPINH1 and SERPINF1 Variants in Autosomal Recessive Osteogenesis Imperfecta Type X and Type VI.
Osteogenesis imperfecta (OI) is a group of connective tissue disorders characterized by bone fragility and low bone mineral density (BMD). Two severe autosomal recessive forms, OI type X and VI, can be caused by variants in the SERPINH1 and SERPINF1 genes, respectively. In this study, we reported two children from two...