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    • PLIN1 haploinsufficiency is not associated with lipodystrophy. 

      Laver, T. W.; Patel, K.A.; Colclough, Kevin; Curran, J.; Dale, J.; Davis, N.; Savage, D. B.; Flanagan, S. E.; Ellard, Sian; Hattersley, Andrew T.; Weedon, M. N. (Endocrine Society, 2018-07-17)
      Monogenic partial lipodystrophy is a genetically heterogenous disease where only variants with specific genetic mechanisms are causative. Three heterozygous protein extending frameshift variants in PLIN1 have been reported ...