| 1 | AGPAT2, BSCL1, BSCL2, BSCL3, CAV1
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| Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability.
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| Simha V, Agarwal AK, Aronin PA, Iannaccone ST, Garg A.
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| Am J Med Genet A 146A(18):2318-26.
2008
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| 2 | BSCL1, BSCL2, AGPAT2
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| Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients.
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| Gomes KB, Pardini VC, Ferreira AC, Fernandes AP.
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| J Inherit Metab Dis 28(6):1123-31. 2005
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| 3 | BSCL1, BSCL2, AGPAT2
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| Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil.
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| Gomes KB, Fernandes AP, Ferreira AC, Pardini H, Garg A, Magre J, Pardini VC.
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| J Clin Endocrinol Metab 89(1):357-61. 2004
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| 4 | BSCL2, BSCL1, AGPAT2
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| Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.
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| Fu M, Kazlauskaite R, Baracho Mde F, Santos MG, Brandao-Neto J, Villares S, Celi FS, Wajchenberg BL, Shuldiner AR.
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| J Clin Endocrinol Metab 89(6):2916-22. 2004
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| 5 | AGPAT2, BSCL1
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| Prevalence of mutations in AGPAT2 among human lipodystrophies.
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| Magre J, Delepine M, Van Maldergem L, Robert JJ, Maassen JA, Meier M, Panz VR, Kim CA, Tubiana-Rufi N, Czernichow P, Seemanova E, Buchanan CR, Lacombe D, Vigouroux C, Lascols O, Kahn CR, Capeau J, Lathrop M.
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| Diabetes 52(6):1573-8. 2003
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| 6 | AGPAT2, BSCL1
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| AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.
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| Agarwal AK, Arioglu E, De Almeida S, Akkoc N, Taylor SI, Bowcock AM, Barnes RI, Garg A.
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| Nat Genet 31(1):21-3. 2002
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| 7 | BSCL1
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| Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci.
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| Heathcote K, Rajab A, Magre J, Syrris P, Besti M, Patton M, Delepine M, Lathrop M, Capeau J, Jeffery S.
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| Diabetes 51(4):1291-3. 2002
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| 8 | BSCL1, FKTN
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| Single nucleotide polymorphisms of the fukutin gene.
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| Cao H, Yuen J, Hegele RA.
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| J Hum Genet 46(8):487-9. 2001
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| 9 | BSCL1
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| A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.
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| Garg A, Wilson R, Barnes R, Arioglu E, Zaidi Z, Gurakan F, Kocak N, O'Rahilly S, Taylor SI, Patel SB, Bowcock AM.
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| J Clin Endocrinol Metab 84(9):3390-4. 1999
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