A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype

作     者：Solaf Mohamed Elsayed Enza Torre Daniela Tavian Laura Moro Corrado Angelini Tawhida Y.Abdel Ghaffar Khalid Zalata Enas Ezzeldein Fahmy Sara Missaglia Solaf Mohamed Elsayed;Enza Torre;Daniela Tavian;Laura Moro;Corrado Angelini;Tawhida Y.Abdel Ghaffar;Khalid Zalata;Enas Ezzeldein Fahmy;Sara Missaglia

作者机构：Medical Genetics DepartmentFaculty of MedicineAin Shams UniversityCairoEgypt Yassin Abdel Ghaffar Center for Liver Disease and ResearchCairoEgypt Laboratory of Cellular Biochemistry and Molecular BiologyCRIBENSCatholic University of the Sacred HeartMilan 20145Italy Department of PsychologyCatholic University of the Sacred HeartMilan 20123Italy Department of Pharmaceutical SciencesUniversity of Piemonte OrientaleNovara 28100Italy Neuromuscular LabDepartment of NeurosciencesUniversity of PadovaCampus Biomedico Pietro D'AbanoPadova 35131Italy 

出 版 物：《Genes & Diseases》 (基因与疾病（英文）)

年 卷 期：2023年第10卷第3期

页      面：690-693页

核心收录：

学科分类：0710[理学-生物学] 0831[工学-生物医学工程（可授工学、理学、医学学位）] 1002[医学-临床医学] 1001[医学-基础医学(可授医学、理学学位)] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 0703[理学-化学] 10[医学] 

基　　金：The publication of this article was supported by Universita Cattolica del Sacro Cuore(Milan Italy) 

主　　题：clinical congenital skeletal 

摘      要：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).