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Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion
BACKGROUND: CYP1B1 variants and deletions are the most common cause of primary congenital glaucoma (PCG). METHODS: We investigated an individual with PCG from the Australian and New Zealand Registry of Advanced Glaucoma. We performed sequencing of the CYP1B1 gene, followed by Multiplex Ligation‐depe...
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| Udgivet i: | Mol Genet Genomic Med |
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| Main Authors: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
John Wiley and Sons Inc.
2019
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6687653/ https://ncbi.nlm.nih.gov/pubmed/31251480 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.774 |
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