Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature

A 3-year-old boy presented with acute corneal hydrops on the left eye and spontaneous corneal rupture on the right eye. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis. A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containi...

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Detalles Bibliográficos
Autores principales: Avgitidou, Georgia, Siebelmann, Sebastian, Bachmann, Bjoern, Kohlhase, Juergen, Heindl, Ludwig M., Cursiefen, Claus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4499622/
https://www.ncbi.nlm.nih.gov/pubmed/26221552
http://dx.doi.org/10.1155/2015/637084

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4499622/
https://www.ncbi.nlm.nih.gov/pubmed/26221552
http://dx.doi.org/10.1155/2015/637084

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