Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B

IMPORTANCE: A precise phenotypic characterization of retinal dystrophies is needed for disease modeling as a basis for future therapeutic interventions. OBJECTIVE: To compare genotype, phenotype, and structural changes in patients with rod-cone dystrophy (RCD) associated with mutations in PDE6A or P...

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Detalhes bibliográficos
Publicado no:JAMA Ophthalmol
Main Authors: Khateb, Samer, Nassisi, Marco, Bujakowska, Kinga M., Méjécase, Cécile, Condroyer, Christel, Antonio, Aline, Foussard, Marine, Démontant, Vanessa, Mohand-Saïd, Saddek, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Formato: Artigo
Idioma:Inglês
Publicado em: American Medical Association 2019
Assuntos:
Original Investigation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6567841/
https://ncbi.nlm.nih.gov/pubmed/30998820
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2018.6367
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