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Outi Makitie

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Case report Open access Oct 2026

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...

Fan Wang, A. Costantini, S. Kaygusuz et al. · 0 citations

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