%0 Case Reports
%T Type 2 congenital generalized lipodystrophy with a heterozygous missense NOTCH2 mutation.
%A Wang M
%A Cun Z
%A Peng J
%A Chen R
%A Li J
%J Eur J Clin Nutr
%V 76
%N 7
%D 07 2022
%M 35043011
%F 4.884
%R 10.1038/s41430-022-01072-y
%X Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease with a prevalence of less than one in ten million. To our knowledge, ~500 cases, including 95% of BSCL2, have been reported in the literatures, but no types of CGL with NOTCH2 gene mutation has been described.