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A legacy of tinnitus: multiple head and neck paragangliomas.
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A legacy of tinnitus: multiple head and neck paragangliomas..pdf | Published version | 88.03 kB | Adobe PDF | View/Open |
Title: | A legacy of tinnitus: multiple head and neck paragangliomas. |
Authors: | Tan, TM Hatfield, EC Thakker, RV Maher, ER Meeran, K Martin, NM Turner, JJ |
Item Type: | Journal Article |
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. |
Issue Date: | 9-Jul-2009 |
Date of Acceptance: | 10-Aug-2009 |
URI: | http://hdl.handle.net/10044/1/21891 |
DOI: | http://dx.doi.org/10.4081/rt.2009.e29 |
ISSN: | 2036-3605 |
Publisher: | PAGEpress |
Start Page: | 88 |
End Page: | 89 |
Journal / Book Title: | Rare Tumors |
Volume: | 1 |
Issue: | 2 |
Copyright Statement: | © Copyright T.M.M. Tan et al., 2009. This work is licensed under a Creative Commons Attribution 3.0 License (by-nc 3.0). |
Appears in Collections: | Department of Medicine (up to 2019) |
This item is licensed under a Creative Commons License