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

• Egile Nagusiak: Lidiia Zhytnik (Egilea), Katre Maasalu (Egilea), Tiia Reimand (Egilea), Binh Ho Duy (Egilea), Sulev Kõks (Egilea), Aare Märtson (Egilea)
• Formatua: Liburua
• Argitaratua: Wiley, 2020-09-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...