The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene

• PURPOSE: To delineate the natural history of visual parameters over time in individuals with biallelic RPE65 mutation–associated inherited retinal dystrophy (IRD); describe the range of causative mutations; determine potential genotype/phenotype relationships; and describe the variety of clinical...

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Publicado no:Am J Ophthalmol
Main Authors: CHUNG, DANIEL C., BERTELSEN, METTE, LORENZ, BIRGIT, PENNESI, MARK E., LEROY, BART P., HAMEL, CHRISTIAN P., PIERCE, ERIC, SALLUM, JULIANA, LARSEN, MICHAEL, STIEGER, KNUT, PREISING, MARKUS, WELEBER, RICHARD, YANG, PAUL, PLACE, EMILY, LIU, EMILY, SCHAEFER, GRACE, DISTEFANO-PAPPAS, JULIE, ELCI, OKAN U., MCCAGUE, SARAH, WELLMAN, JENNIFER A., HIGH, KATHERINE A., REAPE, KATHLEEN Z.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6445969/
https://ncbi.nlm.nih.gov/pubmed/30268864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajo.2018.09.024
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