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Volumn 21, Issue 4, 2013, Pages 469-470

High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations

Author keywords

carotid body tumor; genetic testing; paraganglioma; SDHB; SDHD

Indexed keywords

SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE B; SUCCINATE DEHYDROGENASE D; UNCLASSIFIED DRUG;

EID: 84875050655     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.203     Document Type: Article
Times cited : (36)

References (11)
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  • 4
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  • 6
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    • The Dutch founder mutation SDHD.D92Yshows a reduced penetrance for the development of paragangliomas in a largemultigenerational family
    • Hensen EF, Jansen JC, Siemers MD et al: The Dutch founder mutation SDHD.D92Yshows a reduced penetrance for the development of paragangliomas in a largemultigenerational family. Eur J Hum Genet 2010; 18: 62-66.
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    • Hensen, E.F.1    Jansen, J.C.2    Siemers, M.D.3
  • 7
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    • SDHAF2 (PGL2-SDH5) and hereditaryhead and neck paraganglioma
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    • Pheochromocytomas and extra-adrenalparagangliomas detected by screening in patients with SDHD-associated head-andneckparagangliomas
    • Havekes B, van der Klaauw AA, Weiss MM et al: Pheochromocytomas and extra-adrenalparagangliomas detected by screening in patients with SDHD-associated head-andneckparagangliomas. Endocr Relat Cancer 2009; 16: 527-536.
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    • Low penetrance of a SDHB mutation in a largeDutch paraganglioma family
    • Hes FJ, Weiss MM, Woortman SA et al: Low penetrance of a SDHB mutation in a largeDutch paraganglioma family. BMC Med Genet 2010; 11: 92.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.