Article
Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea.
Clinical genetics - 1 Nov 2014
Kim J H, Seong M-W, Lee K E, Choi H J, Ku E J, Bae J H, Park S S, Choi S H, Kim S W, Shin Cs, Kim S Y
Abstract excerpt
The aim of our study was to assess the frequency of germline mutations and develop the genetic testing strategy in patients with apparently sporadic pheochromocytoma/paraganglioma (PPGL) in Korea. We included 53 patients diagnosed with non-syndromic PPGL without a family history of PPGLs in three referral centers from 2004 to 2011. Succinate dehydrogenase complex B (SDHB), SDHD, Von Hippel-Lindau (VHL), and...
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