Tan, Tricia M. M., Hatfield, Emma C. I., Thakker, Rajesh V., Maher, Eamonn R., Meeran, Karim, Martin, Niamh M. and Turner, Jeremy J. (2009) A legacy of tinnitus: multiple head and neck paragangliomas. Rare Tumors, 1 (2). pp. 88-89. ISSN 2036-3605
Full text not available from this repository. (Request a copy)Abstract
We describe the case of a patient who presented with a right-sided glomus jugulare tumor and bilateral glomus vagale tumors. These proved to be nonmalignant paragangliomas on histopathological analysis. Genetic analysis revealed a germline heterozygous missense mutation (Pro81Leu) in the succinate dehydrogenase subunit D (SDHD) gene. We discuss the clinical presentations of the familial paraganglioma syndrome type 1, which is caused by mutations in SDHD, and the implications for the clinical diagnosis and care of such patients.
| Item Type: | Article |
|---|---|
| Faculty \ School: | Faculty of Medicine and Health Sciences > Norwich Medical School |
| UEA Research Groups: | Faculty of Medicine and Health Sciences > Research Groups > Norwich Clinical Trials Unit |
| Depositing User: | Rhiannon Harvey |
| Date Deposited: | 20 Apr 2011 12:30 |
| Last Modified: | 28 Mar 2025 03:26 |
| URI: | https://ueaeprints.uea.ac.uk/id/eprint/29725 |
| DOI: | 10.4081/rt.2009.e29 |
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