Article
A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency.
Hong Kong medical journal = Xianggang yi xue za zhi - 1 Apr 2007
Ma Ronald C W, Lam C W, Chan W B, So W Y, Tong S F, Chow C C, Cockram C S
Abstract excerpt
We report the genetic characteristics of a family with familial paraganglioma syndrome. The index patient was diagnosed with carcinoid tumour of the bronchus at the age of 30 years then later diagnosed with bilateral phaeochromocytoma. His sister had bilateral carotid body tumours. Mutational analyses of succinate dehydrogenase B and SDHD on the index patient showed him to be heterozygous for the M1I mutation of...
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