Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma
نویسندگان
چکیده
منابع مشابه
Familial paraganglioma of head and neck
Paragangliomas are tumors originated from non-chromaffin paranganglia cells derived from the neural crest. These highly vascular tumors are located in the region which extends from skull base to arcus aorta. Head and neck paragangliomas have rare occurence constituting 0.012% of all the body tumors and 0.6% of head and neck tumors. Head and neck paragangliomas occur in sporadic and familial for...
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BACKGROUND Carotid body (CB) is a highly specialized paraganglion originating from the neural crest ectoderm. CB paraganglion can be caused either by a genetic predisposition (hereditary paraganglia) or by chronic hypoxic stimulation. Germline mutations in any of the following genes: SDHD, SDHC, SDHB, PGL2 or other unknown genes, can cause paragangliomas (PGLs). MATERIALS AND METHODS We studi...
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15 صفحه اولSdhd and Sdhd/H19 Knockout Mice Do Not Develop Paraganglioma or Pheochromocytoma
BACKGROUND Mitochondrial succinate dehydrogenase (SDH) is a component of both the tricarboxylic acid cycle and the electron transport chain. Mutations of SDHD, the first protein of intermediary metabolism shown to be involved in tumorigenesis, lead to the human tumors paraganglioma (PGL) and pheochromocytoma (PC). SDHD is remarkable in showing an 'imprinted' tumor suppressor phenotype. Mutation...
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ژورنال
عنوان ژورنال: Clinical Otolaryngology
سال: 2021
ISSN: 1749-4478,1749-4486
DOI: 10.1111/coa.13782