von Hippel–Lindau disease and succinate dehydrogenase subunit (<i>SDHB, SDHC</i>, and <i>SDHD</i>) genes

Eamonn R. Maher

in Oxford Textbook of Endocrinology and Diabetes

Second edition

Published on behalf of Oxford University Press

Published in print July 2011 | ISBN: 9780199235292
Published online July 2011 | e-ISBN: 9780199608232 | DOI:

Series: Oxford Textbooks

von Hippel–Lindau disease and succinate dehydrogenase subunit (SDHB, SDHC, and SDHD) genes

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This chapter considers the clinical and molecular features of von Hippel–Lindau (VHL) disease (OMIM 193300) and mutations in succinate dehydrogenase subunit genes (SDHB (OMIM 115310), SDHC (OMIM 605373), and SDHD (OMIM 168000)). Both disorders are important causes of phaeochromocytoma and, in addition to having overlapping clinical phenotypes, also share some similarities in mechanisms of tumourigenesis.

Chapter.  4520 words.  Illustrated.

Subjects: Endocrinology and Diabetes

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