Article
[From gene to disease; from SDHD, a defect in the respiratory chain, to paragangliomas and pheochromocytomas].
Nederlands tijdschrift voor geneeskunde - 16 Nov 2002
Taschner P E M, Bröcker-Vriends A H J T, van der Mey A G L
Abstract excerpt
Hereditary paragangliomas are rare benign tumours arising from neuroectodermal tissue in the head and neck region. In families with paraganglioma, occasionally adrenal and extra-adrenal pheochromocytomas are found. Paragangliomas, adrenal and extra-adrenal pheochromocytomas may be caused by mutations in the SDHB, SDHC and SDHD genes encoding different subunits of mitochondrial respiratory chain complex II. Most...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.