A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype
在两名 Chanarin Dorfman 同胞中发现一种新的 ABHD5 突变,表现出严重且异质的临床表型
期刊:Genes and Diseases
影响因子:
doi:10.1016/j.gendis.2022.08.005
Elsayed, Solaf Mohamed; Torre, Enza; Tavian, Daniela; Moro, Laura; Angelini, Corrado; Abdel Ghaffar, Tawhida Y; Zalata, Khalid; Fahmy, Enas Ezzeldein; Missaglia, Sara