An Atypical Form of Bietti Crystalline Dystrophy

PURPOSE: To describe clinical and functional features of a patient with Bietti crystalline dystrophy and atypical electroretinogram responses. METHODS: The patient underwent a thorough medical anamnesis, genetic counseling, peripheral blood draw for CYP4V2 gene analysis and electron microscopy, and...

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Main Authors: Rossi, Settimio, Testa, Francesco, Li, Anren, Di Iorio, Valentina, Zhang, Jun, Gesualdo, Carlo, Corte, Michele Della, Chan, Chi-Chao, Hejtmancik, J. Fielding, Simonelli, Francesca
Format: Artigo
Language:Inglês
Published: 2011
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3155699/
https://ncbi.nlm.nih.gov/pubmed/21385027
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/13816810.2011.559653
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