AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome
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Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is an autosomal recessive disorder, caused by mutation in the AGPAT2 gene, which could lead to insulin resistance and variety of complications. Herein, a 7-year old girl is presented with generalized l... ...
