Etiology of Osteogenesis Imperfecta: COL1A1 Gene Mutations in Czech Patients

Abstrakt

Osteogenesis imperfecta (OI) is caused by collagen gene mutations. Authors describe a group of patients with OI from clinical and genetical aspects - with the interest of phenotype and genotype comparison.

Klíčová slova

• Olga Maříková
• 221951622 osteogenesis imperfecta
• genotype
• phenotype
• COL1A1 gene
• mutation