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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Vydáno v:Am J Ophthalmol
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2018
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On-line přístup: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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