A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma

BACKGROUND: Glaucoma is a leading cause of irreversible blindness. Pathogenic variants in the Myocilin gene (MYOC) cause juvenile open angle glaucoma (JOAG) in 8–36 % of cases, and display an autosomal dominant inheritance with high penetrance. Molecular diagnosis is important for early identificati...

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Detalles Bibliográficos
Autores principales: Souzeau, Emmanuelle, Burdon, Kathryn P., Ridge, Bronwyn, Dubowsky, Andrew, Ruddle, Jonathan B., Craig, Jamie E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831102/
https://www.ncbi.nlm.nih.gov/pubmed/27080696
http://dx.doi.org/10.1186/s12881-016-0291-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831102/
https://www.ncbi.nlm.nih.gov/pubmed/27080696
http://dx.doi.org/10.1186/s12881-016-0291-5

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