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Bilateral giant retinal tears in Osteogenesis Imperfecta

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 principl...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:BMC Med Genet
Main Authors: Scollo, Paolo, Snead, Martin Paul, Richards, Allan James, Pollitt, Rebecca, DeVile, Catherine
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2018
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5766974/
https://ncbi.nlm.nih.gov/pubmed/29329516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0521-0
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