1 | PGL2, SDHAF2
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| SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.
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| Hao HX, Khalimonchuk O, Schraders M, Dephoure N, Bayley JP, Kunst H, Devilee P, Cremers CW, Schiffman JD, Bentz BG, Gygi SP, Winge DR, Kremer H, Rutter J.
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| Science 325(5944):1139-42. Epub 2009 Jul 23.
2009
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2 | PGL1, PGL2, PGL3, PGL4, SDHB, SDHC SDHD
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| Clinical and molecular progress in hereditary paraganglioma.
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| Baysal BE.
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| J Med Genet 45(11):689-94.
2008
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3 | PGL1, PGL2, PGL3, PGL4, PGL5, SDHB, SDHD, SDHC
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| Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
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| Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, Rohmer V, Tucker K, Jeunemaitre X, Marsh DJ, Plouin PF, Robinson BG.
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| J Clin Endocrinol Metab 91(3):827-36. Epub 2005 Nov 29. 2006
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4 | PGL1, PGL2, PGL3, PGL4, SDHB, SDHC, SDHD
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| Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.
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| Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, Yee HA, Brackmann DE, Slattery WH 3rd, Myers EN, Ferrell RE, Rubinstein WS.
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| J Med Genet 39(3):178-83. 2002
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5 | BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
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| Nuclear genetic defects of oxidative phosphorylation.
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| Shoubridge EA.
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| Hum Mol Genet 10(20):2277-84. Review. 2001
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6 | PGL2
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| Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1 : evidence for genetic heterogeneiy.
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| Mariman ECM, et al.
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| Hum Genet 95 : 56-62. 1995
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7 | PGL2
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| Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q.
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| Mariman ECM, et al.
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| Hum Genet 91 : 357-361. 1993
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