Inter‐ and Intrafamilial Phenotypic Variability in Individuals with Collagen‐Related Osteogenesis Imperfecta

• Váldodahkkit: Lidiia Zhytnik (Dahkki), Katre Maasalu (Dahkki), Tiia Reimand (Dahkki), Binh Ho Duy (Dahkki), Sulev Kõks (Dahkki), Aare Märtson (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: Wiley, 2020-09-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Osteogenesis imperfecta (OI) is a rare genetic disorder also known as a "brittle bone disease." Around 90% of patients with OI harbor loss‐of‐function or dominant negative pathogenic variants in the COL1A1 and COL1A2 genes, which code for collagen type I α1 and α2 chains. Collagen‐related...