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Whole-exome sequencing analysis in a case of primary congenital glaucoma due to the partial uniparental isodisomy
We described a clinical, laboratory, and genetic presentation of a pathogenic variant of the CYP1B1 gene through a report of a case of primary congenital glaucoma and a trio analysis of this candidate variant in the family with the Sanger sequencing method and eventually completed our study with the...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Korea Genome Organization
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9576475/ https://www.ncbi.nlm.nih.gov/pubmed/36239105 http://dx.doi.org/10.5808/gi.21044 |