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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Genes (Basel)
Huvudupphovsmän: da Palma, Mariana Matioli, Motta, Fabiana Louise, Salles, Mariana Vallim, Texeira, Caio Henrique Marques, Gomes, André V., Casaroli-Marano, Ricardo, Sallum, Juliana Maria Ferraz
Materialtyp: Artigo
Språk:Inglês
Publicerad: MDPI 2021
Ämnen:
Case Report
Länkar: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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