Bilateral giant retinal tears in Osteogenesis Imperfecta

• मुख्य लेखकों: Paolo Scollo (लेखक), Martin Paul Snead (लेखक), Allan James Richards (लेखक), Rebecca Pollitt (लेखक), Catherine DeVile (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2018-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...