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

Genes Dis. 2022 Aug 30;10(3):690-693. doi: 10.1016/j.gendis.2022.08.005. eCollection 2023 May.

Solaf Mohamed Elsayed^{1

2}, Enza Torre^{3

4}, Daniela Tavian^{3

4}, Laura Moro⁵, Corrado Angelini⁶, Tawhida Y Abdel Ghaffar², Khalid Zalata², Enas Ezzeldein Fahmy², Sara Missaglia^{3

4}

¹ Medical Genetics Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
² Yassin Abdel Ghaffar Center for Liver Disease and Research, Cairo, Egypt.
³ Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, Milan 20145, Italy.
⁴ Department of Psychology, Catholic University of the Sacred Heart, Milan 20123, Italy.
⁵ Department of Pharmaceutical Sciences, University of Piemonte Orientale, Novara 28100, Italy.
⁶ Neuromuscular Lab, Department of Neurosciences, University of Padova, Campus Biomedico Pietro D'Abano, Padova 35131, Italy.

No abstract available