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Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes
PURPOSE: The aim of this study was to investigate the molecular basis of childhood glaucoma in Switzerland to recommend future targeted genetic analysis in the Swiss population. METHODS: Whole-exome sequencing and copy number variation (CNV) analysis was performed in a Swiss cohort of 18 patients fr...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Association for Research in Vision and Ophthalmology
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7414719/ https://www.ncbi.nlm.nih.gov/pubmed/32832252 http://dx.doi.org/10.1167/tvst.9.7.47 |