Article
A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment.
Head & neck - 1 Feb 2003
Renard Laurette, Godfraind Catherine, Boon Laurence M, Vikkula Miikka
Abstract excerpt
BACKGROUND: Early detection of paragangliomas (PGs) has been linked to low morbidity after surgical resection. Recent identification of causative genes (SDHB, SDHC, and SDHD) has made it possible to detect individuals at high risk for tumors. METHODS: We identified a three-generation family, with four individuals affected with PGs. Because pedigree analysis suggested maternal imprinting (the phenotype is present...
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