Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the near-total loss of subcutaneous adipose tissue soon after birth, resulting in ectopic fat deposition and s...

Source: Diabetology and Metabolic Syndrome - April 6, 2020 Category: Endocrinology Authors: Renan Magalh ães Montenegro Junior, Grayce Ellen da Cruz Paiva Lima, Virgínia Oliveira Fernandes, Ana Paula Dias Rangel Montenegro, Clarisse Mourão Melo Ponte, Lívia Vasconcelos Martins, Daniel Pascoalino Pinheiro, Maria Elisabete Amaral de Moraes, Ma Tags: Research Source Type: research