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Tophaceous gout of the nose in a male FMR1 premutation carrier
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.
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9701845/ https://www.ncbi.nlm.nih.gov/pubmed/36447664 http://dx.doi.org/10.1002/ccr3.6586 |
| _version_ | 1784839630451900416 |
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| author | Tang, Si Jie Giri, Shanthi Pahlavan, Nima Han, Sophia H. Santos, Ellery R. Espinal, Glenda Aishworiya, Ramkumar Schneider, Andrea Hessl, David Rivera, Susan M. Hagerman, Randi J. |
| author_facet | Tang, Si Jie Giri, Shanthi Pahlavan, Nima Han, Sophia H. Santos, Ellery R. Espinal, Glenda Aishworiya, Ramkumar Schneider, Andrea Hessl, David Rivera, Susan M. Hagerman, Randi J. |
| author_sort | Tang, Si Jie |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-9701845 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-97018452022-11-28 Tophaceous gout of the nose in a male FMR1 premutation carrier Tang, Si Jie Giri, Shanthi Pahlavan, Nima Han, Sophia H. Santos, Ellery R. Espinal, Glenda Aishworiya, Ramkumar Schneider, Andrea Hessl, David Rivera, Susan M. Hagerman, Randi J. Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2022-11-27 /pmc/articles/PMC9701845/ /pubmed/36447664 http://dx.doi.org/10.1002/ccr3.6586 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Case Report Tang, Si Jie Giri, Shanthi Pahlavan, Nima Han, Sophia H. Santos, Ellery R. Espinal, Glenda Aishworiya, Ramkumar Schneider, Andrea Hessl, David Rivera, Susan M. Hagerman, Randi J. Tophaceous gout of the nose in a male FMR1 premutation carrier |
| title | Tophaceous gout of the nose in a male FMR1 premutation carrier |
| title_full | Tophaceous gout of the nose in a male FMR1 premutation carrier |
| title_fullStr | Tophaceous gout of the nose in a male FMR1 premutation carrier |
| title_full_unstemmed | Tophaceous gout of the nose in a male FMR1 premutation carrier |
| title_short | Tophaceous gout of the nose in a male FMR1 premutation carrier |
| title_sort | tophaceous gout of the nose in a male fmr1 premutation carrier |
| topic | Case Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9701845/ https://www.ncbi.nlm.nih.gov/pubmed/36447664 http://dx.doi.org/10.1002/ccr3.6586 |
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