Chanarin Dorfman Syndrome(CDS;MIM:275630)is a rare autosomal recessive disorder,characterized by triacylglycerol(TG)accumulation in lipid droplets(LDs)within different tissues including skin,liver,skeletal muscle,bone...Chanarin Dorfman Syndrome(CDS;MIM:275630)is a rare autosomal recessive disorder,characterized by triacylglycerol(TG)accumulation in lipid droplets(LDs)within different tissues including skin,liver,skeletal muscle,bone marrow,eyes,ears,and central nervous system.1 In CDS,the prevalent and always observed clinical feature is a non-bullous congenital ichthyosiform erythroderma(NCIE).展开更多
基金The publication of this article was supported by Universita Cattolica del Sacro Cuore(Milan,Italy).
文摘Chanarin Dorfman Syndrome(CDS;MIM:275630)is a rare autosomal recessive disorder,characterized by triacylglycerol(TG)accumulation in lipid droplets(LDs)within different tissues including skin,liver,skeletal muscle,bone marrow,eyes,ears,and central nervous system.1 In CDS,the prevalent and always observed clinical feature is a non-bullous congenital ichthyosiform erythroderma(NCIE).
