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Clinical diversity in patients with Schnyder corneal dystrophy—a novel and known UBIAD1 pathogenic variants
PURPOSE: Schnyder corneal dystrophy (SCD) is a rare inherited disease that leads to gradual vision loss by the deposition of lipids in the corneal stroma. The aim of this study is to report a novel pathogenic variant in the UBIAD1 gene and present clinical and molecular findings in Polish patients w...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208719/ https://www.ncbi.nlm.nih.gov/pubmed/30084067 http://dx.doi.org/10.1007/s00417-018-4075-9 |