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Congenital generalized lipodystrophy
- ... AGPAT2 gene have been identified in people with congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 1. ... diabetes mellitus.The AGPAT2 gene mutations that cause congenital generalized lipodystrophy type 1 greatly reduce or eliminate the activity ...
- ... the CAVIN1 gene have been found to cause congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 4. ... bloodstream (hypertriglyceridemia) and diabetes mellitus. Additional ... lipodystrophy type 4 include muscle weakness, delayed development, joint ...
- ... the CAV1 gene has been found to cause congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 3. ... bloodstream (hypertriglyceridemia) and diabetes mellitus. Additional features ... generalized lipodystrophy type 3 include poor growth and short stature. ...
- ... BSCL2 gene have been identified in people with congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 2. ... Most of the BSCL2 gene mutations that cause congenital generalized lipodystrophy type 2 lead to the production of a ...