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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687653/ https://www.ncbi.nlm.nih.gov/pubmed/31251480 http://dx.doi.org/10.1002/mgg3.774 |