Novel mutations of the <i>BSCL2</i> and <i>AGPAT2</i> genes in 10 families with Berardinelli–Seip congenital generalized lipodystrophy syndrome

Abstract

We have demonstrated four novel mutations of the BSCL2 and AGPAT2 genes responsible for Berardinelli-Seip syndrome and Brunzell syndrome (AGPAT2-related syndrome).