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Review Open access Oct 2026

Case Report: Pediatric osteogenesis imperfecta type 1: a pedigree report and literature review

Osteogenesis imperfecta (OI), also known as “brittle bone disease,” is a congenital disorder typically inherited in an autosomal dominant manner. It is a rare genetic disease caused by abnormal mesodermal development leading to defective collagen formation due to variants in various genes. OI is a hereditary connective...

Rong Rong, Xin-Yu Li, Xu-Han Liu · 0 citations

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