作者
Francesca Schiavi, Carsten C Boedeker, Birke Bausch, Mariola Peçzkowska, Clara Fuentes Gomez, Thomas Strassburg, Christian Pawlu, Mary Buchta, Maren Salzmann, Michael M Hoffmann, Ansgar Berlis, Ingo Brink, Markus Cybulla, Mihaela Muresan, Martin A Walter, Flavio Forrer, Matti Välimäki, Andrzej Kawecki, Zbigniew Szutkowski, Jörg Schipper, Martin K Walz, Pascal Pigny, Catherine Bauters, Joan E Willet-Brozick, Bora E Baysal, Andrzej Januszewicz, Charis Eng, Giuseppe Opocher, Hartmut PH Neumann, European-American Paraganglioma Study Group
发表日期
2005/10/26
期刊
Jama
卷号
294
期号
16
页码范围
2057-2063
出版商
American Medical Association
简介
ContextParaganglioma syndrome includes inherited head and neck paragangliomas (HNPs) and adrenal or extra-adrenal pheochromocytomas and are classified according to the susceptibility genes SDHB, SDHC, and SDHD. In contrast with those with germline mutations of the SDHB and SDHD genes, clinical and genetic data on patients with mutations of SDHC are scarce.ObjectiveTo determine the prevalence and clinical characteristics of SDHC mutation carriers compared with patients with SDHB and SDHD mutations and with sporadic cases.Design, Setting, and PatientsGenetic screening for SDHC mutations in an international HNP registry of 121 unrelated index cases and in 371 sporadic cases from a pheochromocytoma registry, conducted January 1, 2001, until December 31, 2004. Identified index cases and affected relatives were clinically evaluated.Main Outcome MeasuresPrevalence of and clinical …
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