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

• Main Authors: Lidiia Zhytnik (Author), Katre Maasalu (Author), Tiia Reimand (Author), Binh Ho Duy (Author), Sulev Kõks (Author), Aare Märtson (Author)
• פורמט: ספר
• יצא לאור: Wiley, 2020-09-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: 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...