Clinical, genetics and in silico analysis of a novel BSCL2 variant in a patient with CGL2 from Iranian Azeri Turkish ethnic group: expanding the genotypic spectrum through a comparative review
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Congenital generalized lipodystrophy type 2 is a rare autosomal recessive disorder caused by mutation in the BSCL2 gene. Here we report a novel variant (NM_001122955.4:c.828_835dup p.(Arg279ProfsTer21)) in an 18-year-old female with congenital generalized lipo... ...
