Bilateral giant retinal tears in Osteogenesis Imperfecta

Bilateral giant retinal tears in Osteogenesis Imperfecta

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...

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Bibliographic Details
Main Authors: Paolo Scollo, Martin Paul Snead, Allan James Richards, Rebecca Pollitt, Catherine DeVile
Format: Article
Language:English
Published: BMC 2018-01-01
Series:BMC Medical Genetics
Subjects:
Osteogenesis Imperfecta
P3H1/LEPRE1
Genetic analysis
Retinal detachment
Vitreoretinal
Online Access:http://link.springer.com/article/10.1186/s12881-018-0521-0

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http://link.springer.com/article/10.1186/s12881-018-0521-0

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