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Congenital generalized lipodystrophy type 3
- ... Testing Registry: Congenital generalized lipodystrophy Genetic Testing Registry: Congenital generalized lipodystrophy type 3 Genetic Testing Registry: Congenital generalized lipodystrophy type 4 ...
- ... bloodstream (hypertriglyceridemia) and diabetes mellitus. Additional features of congenital generalized lipodystrophy type 3 include poor growth and short stature.The identified ...
- ... fat underlies the varied signs and symptoms of congenital generalized lipodystrophy type 1. More About This Health Condition 1-acyl-sn-glycerol-3-phosphate acyltransferase beta 1-acylglycerol-3-phosphate O- ...
- ... CAVIN mutations. PLoS Genet. 2010 Mar 12;6(3):e1000874. doi: 10.1371/journal.pgen.1000874. Citation on PubMed or Free article on PubMed Central Shastry S, Delgado MR, Dirik E, Turkmen M, Agarwal AK, Garg A. Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel ...
- ... Most of the BSCL2 gene mutations that cause congenital generalized lipodystrophy type 2 lead to the production of a nonfunctional ... underlies most of the signs and symptoms of congenital generalized lipodystrophy type 2. A loss of seipin function in the ...