Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
Article Abstract:
An attempt is made to determine the differences in clinical features in carriers of succinate dehydrogenase subunit B (SDHB) mutations and succinate dehydrogenase subunit D (SDHD) mutations. Results reveal that in contrast with SDHD mutation carriers (PGL-1) who have more frequent multifocal paragangliomas, SDHB mutations carriers (PGL-4) are more likely to develop malignant disease.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2004
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Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene
Article Abstract:
The prevalence and clinical characteristics of succinate dehydrogenase (SDH)C mutation carrier compared with patients with SDHB and SDHD mutations and with sporadic cases is determined. Head and neck paragangliomas associated with SDHC mutations are virtually exclusively benign and seldom multifocal.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2005
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Evidence of Men-2 in the original description of classic pheochromocytoma
Article Abstract:
A clinical report of an 18-year old woman with bilateral adrenal sarcoma and angio-sarcoma is discussed. The research of pheochromocytoma was facilitated by detection of the presence of RET mutations in the family members of the patients.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2007
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