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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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Bibliografski detalji
Izdano u:Genes (Basel)
Glavni autori: da Palma, Mariana Matioli, Motta, Fabiana Louise, Salles, Mariana Vallim, Texeira, Caio Henrique Marques, Gomes, André V., Casaroli-Marano, Ricardo, Sallum, Juliana Maria Ferraz
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2021
Teme:
Online pristup: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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