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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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| Gepubliceerd in: | BMC Med Genet |
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| Hoofdauteurs: | , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BioMed Central
2016
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4831102/ https://ncbi.nlm.nih.gov/pubmed/27080696 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0291-5 |
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