Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion
Abstract 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 Ligati...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2019-08-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.774 |