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ea0011p527 | Endocrine tumours and neoplasia | ECE2006

Origin and spread of the SDHD p.Y114C mutation causing head and neck paraganglioma in Trentino, Italy

Schiavi F , Erlic Z , Savvoukidis T , Demattè S , Del Piano A , Cecchini ME , Amistà P , Grego F , Trabalzini F , Hoffman M , Schwentek A , Mantero F , Branz F , Neumann HPH , Opocher G

Head and neck paragangliomas (HNPs) are tumors derived from the neuroectoderm. HNPs are generally hormonally silent and often asymptomatic. They can be part of the Pheochromocytoma/ Paraganglioma Syndrome, due to mutations of SDHB, SDHC and SDHD genes. SDHD founder effects have been described in the Netherland, USA, Italy and Spain.We identified a new founder effect in a small geographic area (Valsugana-Trentino, actually 50.000 inhabitants), with high a...

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Endocrine Abstracts

Origin and spread of the SDHD p.Y114C mutation causing head and neck paraganglioma in Trentino, Italy

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