Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: Report on a novel mutation

PURPOSE: Bietti crystalline dystrophy (BCD) is a rare autosomal recessive disorder caused by mutation of the cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2) gene and characterized by retinal pigmentary abnormalities and scattered deposits of crystals in the retina and the marginal cor...

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Detalles Bibliográficos
Autores principales: Haddad, Nour Maya N., Waked, Naji, Bejjani, Riad, Khoueir, Ziad, Chouery, Eliane, Corbani, Sandra, Mégarbané, André
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351416/
https://www.ncbi.nlm.nih.gov/pubmed/22605929

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