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...

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Bibliographische Detailangaben
Veröffentlicht in:JAMA Ophthalmol
Hauptverfasser: Shah, Mital, Broadgate, Suzanne, Shanks, Morag, Clouston, Penny, Yu, Jing, MacLaren, Robert E., Németh, Andrea H., Halford, Stephanie, Downes, Susan M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Medical Association 2020
Schlagworte:
Original Investigation
Online Zugang: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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