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Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy
The rare form of retinal dystrophy, Bietti crystalline dystrophy, is associated with variations in CYP4V2, a member of the cytochrome P450 family. This study reports patients affected by typical and atypical Bietti crystalline dystrophy, expanding the spectrum of this disease. This is an observation...
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| Publicado no: | Genes (Basel) |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8151499/ https://ncbi.nlm.nih.gov/pubmed/34068831 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12050713 |
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