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Paragangliomas 2
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- ... gene has been identified in people with hereditary paraganglioma-pheochromocytoma type 2. People with this condition have paragangliomas, pheochromocytomas, or ...
- ... PH. Genetics and molecular pathogenesis of pheochromocytoma and paraganglioma. Clin Endocrinol (Oxf). 2013 Feb;78(2):165-75. doi: 10.1111/cen.12071. Citation ...
- ... Trent J, Perrier ND, Goodarzi M, Jimenez C. Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome. Nat Rev Endocrinol. 2010 Feb;6(2):110-5. doi: 10.1038/nrendo.2009.250. ...
- ... cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet. 2001 Jul;69(1):49-54. doi: 10.1086/321282. Epub 2001 Jun 12. Erratum In: Am J Hum Genet 2002 Feb;70(2):565. Citation on PubMed or Free article on ...
- ... of developing a type of paraganglioma called pheochromocytoma. Paragangliomas ... neoplasia type 2 (described below), but they can also be nonsyndromic, ...
- ... mutation may be associated with the development of paragangliomas. More About This Health ... factor 1 EGLN1_HUMAN HIF prolyl hydroxylase 2 HIF-PH2 HIF-prolyl hydroxylase 2 HIFPH2 HPH- ...
- ... a shortened protein.Most people with TMEM127-related paraganglioma or ... Together, the two mutations lead to reduced or absent TMEM127 protein. ...
- ... genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Hum Mol Genet. ... Citation on PubMed Kaelin WG. Von Hippel-Lindau ...
- ... Opocher G, Schiavi F. Genetics of pheochromocytomas and paragangliomas. Best ... Hum Genet. 2000 Feb;106(2):236-43. doi: 10.1007/s004390051033. Citation on ...
- ... particularly noncancerous tumors in the nervous system called paragangliomas (described below) and noncancerous lung tumors called pulmonary ... is usually associated with the development of GIST, paraganglioma, and pulmonary chondroma; this combination of tumors is ...