Bilateral giant retinal tears in Osteogenesis Imperfecta

• Principais autores: Paolo Scollo (Autor), Martin Paul Snead (Autor), Allan James Richards (Autor), Rebecca Pollitt (Autor), Catherine DeVile (Autor)
• Formato: Livro
• Publicado em: BMC, 2018-01-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Osteogenesis imperfecta (OI) is a rare primarily autosomal dominant condition in which the connective tissues of bones, ligaments and sclerae do not form properly. Typically, mutations in COL1A1 and COL1A2 genes lead to the defective formation or quantity of type I collagen, the...