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2013 1
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Juvenile-onset hereditary pheochromocytoma-paraganglioma syndrome.
Sugisawa C, Okada Y, Arao T, Mori H, Nishida K, Isobe K, Takekoshi K, Tanaka Y. Sugisawa C, et al. Intern Med. 2013;52(2):281-4. doi: 10.2169/internalmedicine.52.8223. Epub 2013 Jan 15. Intern Med. 2013. PMID: 23318864 Free article.
The present case indicates that conducting genetic testing, including SDHB mutation analyses, is required to determine the prognosis in patients highly suspected of having HPPS....
The present case indicates that conducting genetic testing, including SDHB mutation analyses, is required to determine the prognosis …
Hereditary pheochromocytoma/paraganglioma syndrome with a novel mutation in the succinate dehydrogenase subunit B gene in a Japanese family: two case reports.
Hirose R, Tsurutani Y, Sugisawa C, Inoue K, Suematsu S, Nagata M, Hasegawa N, Kakuta Y, Yonamine M, Takekoshi K, Kimura N, Saito J, Nishikawa T. Hirose R, et al. J Med Case Rep. 2021 May 22;15(1):282. doi: 10.1186/s13256-021-02852-z. J Med Case Rep. 2021. PMID: 34020699 Free PMC article.
Afterwards, the same succinate dehydrogenase subunit B mutation was detected in her father's paraganglioma tissues. In silico analysis predicted the mutation as "disease causing." She is under close follow-up, and no recurrence or metastasis has been observed for 4 years s …
Afterwards, the same succinate dehydrogenase subunit B mutation was detected in her father's paraganglioma tissues. In silico analysis pr …
Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation.
Casey R, Garrahy A, Tuthill A, O'Halloran D, Joyce C, Casey MB, O'Shea P, Bell M. Casey R, et al. J Clin Endocrinol Metab. 2014 Jul;99(7):E1392-6. doi: 10.1210/jc.2013-4536. Epub 2014 Apr 8. J Clin Endocrinol Metab. 2014. PMID: 24712571
RESULTS: A total of 31 patients were tested, 31% (n = 10) of whom were found to have a genetic mutation. Of those patients with a positive genotype, phenotype predicted genotype in only 50% (n = 5). Significant genetic mutations that would have been missed in our cohort by …
RESULTS: A total of 31 patients were tested, 31% (n = 10) of whom were found to have a genetic mutation. Of those patients with a positive g …