Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations

IMPORTANCE: Detailed phenotypic information on the spectrum of fundus abnormalities and clinical variability of all phenotypes associated with sequence variations in BEST1 is limited. OBJECTIVE: To report a detailed phenotypic and genetic analysis of a patient cohort with sequence variations in BEST...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:JAMA Ophthalmol
Prif Awduron: Shah, Mital, Broadgate, Suzanne, Shanks, Morag, Clouston, Penny, Yu, Jing, MacLaren, Robert E., Németh, Andrea H., Halford, Stephanie, Downes, Susan M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Medical Association 2020
Pynciau:
Original Investigation
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7118667/
https://ncbi.nlm.nih.gov/pubmed/32239196
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2020.0666
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