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Tophaceous gout of the nose in a male FMR1 premutation carrier

Authors: Si Jie Tang; Shanthi Giri; Nima Pahlavan; Sophia H. Han; Ellery R. Santos; Glenda Espinal; Ramkumar Aishworiya; +4 Authors

Tophaceous gout of the nose in a male FMR1 premutation carrier

Abstract

Abstract Premutation alleles with 55–200 CGG repeats in FMR1 can lead to fragile X‐associated tremor/ataxia syndrome (FXTAS). In this case study, we report uncontrolled gout in a 68‐year‐old male with FXTAS with multiple sites of involvement including a rare gouty tophus in the nasal region.

Country
United States
Keywords

Medicine (General), Biomedical and clinical sciences, Intellectual and Developmental Disabilities (IDD), Veterinary and Food Sciences, Case Report, Rare Diseases, gout, R5-920, veterinary and food sciences, 616, Health Sciences, 2.1 Biological and endogenous factors, FMR1, Agricultural, Biomedical and Clinical Sciences, Neurosciences, R, Health sciences, tophi, Brain Disorders, premutation, Fragile X Syndrome, Neurological, Medicine, FXTAS

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    influence
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
Green
gold