Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy

Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy

The rare form of retinal dystrophy, Bietti crystalline dystrophy, is associated with variations in <i>CYP4V2</i>, 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. Thi...

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Bibliographic Details
Main Authors: Mariana Matioli da Palma, Fabiana Louise Motta, Mariana Vallim Salles, Caio Henrique Marques Texeira, André V. Gomes, Ricardo Casaroli-Marano, Juliana Maria Ferraz Sallum
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Genes
Subjects:
bietti crystalline dystrophy
CYP4V2 protein
genetic testing
missense mutation
insertion-deletion mutation
Online Access:https://www.mdpi.com/2073-4425/12/5/713

Internet

https://www.mdpi.com/2073-4425/12/5/713

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