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  • Title: [From gene to disease; from SDHD, a defect in the respiratory chain, to paragangliomas and pheochromocytomas].
    Author: Taschner PE, Bröcker-Vriends AH, van der Mey AG.
    Journal: Ned Tijdschr Geneeskd; 2002 Nov 16; 146(46):2188-90. PubMed ID: 12467161.
    Abstract:
    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 paraganglioma cases in the Netherlands are caused by SDHD mutations. Presymptomatic DNA diagnosis is available for families with paragangliomas caused by SDHD mutations.
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