دورية أكاديمية
A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype
| العنوان: | A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype |
|---|---|
| المؤلفون: | Elsayed, Solaf Mohamed, Torre, Enza, Tavian, Daniela, Moro, Laura, Angelini, Corrado, Abdel Ghaffar, Tawhida Y., Zalata, Khalid, Fahmy, Enas Ezzeldein, Missaglia, Sara |
| المصدر: | In Genes & Diseases May 2023 10(3):690-693 |
| قاعدة البيانات: | ScienceDirect |
Full Text Finder | تدمد: | 23523042 |
|---|---|
| DOI: | 10.1016/j.gendis.2022.08.005 |