Bilateral giant retinal tears in Osteogenesis Imperfecta.

Bilateral giant retinal tears in Osteogenesis Imperfecta.

Published version

Peer-reviewed

Repository URI

https://www.repository.cam.ac.uk/handle/1810/274146

Repository DOI

https://doi.org/10.17863/CAM.21229

Files

Published version (1.52 MB)

Type

Article

Authors

Scollo, Paolo

https://orcid.org/0000-0002-5577-616X

Snead, Martin

https://orcid.org/0000-0003-0042-8659

Richards, Allan

Pollitt, Rebecca

https://orcid.org/0000-0002-8864-397X

DeVile, Catherine

Keywords

Humans, Osteogenesis Imperfecta, Retinal Detachment, Retinal Perforations, Collagen Type I, Collagen Type II, Collagen Type V, Proteoglycans, Membrane Glycoproteins, Protein Processing, Post-Translational, Genes, Recessive, Child, Male, Genetic Testing, Prolyl Hydroxylases

Journal Title

BMC medical genetics

Journal ISSN

1471-2350
1471-2350

Volume Title

19

Publisher DOI

https://doi.org/10.1186/s12881-018-0521-0

Rights

Attribution 4.0 International

Collections

Scholarly Works - Pathology