Genes and Diseases (May 2023)
A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype
- Solaf Mohamed Elsayed,
- Enza Torre,
- Daniela Tavian,
- Laura Moro,
- Corrado Angelini,
- Tawhida Y. Abdel Ghaffar,
- Khalid Zalata,
- Enas Ezzeldein Fahmy,
- Sara Missaglia
Affiliations
- Solaf Mohamed Elsayed
- Medical Genetics Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt; Yassin Abdel Ghaffar Center for Liver Disease and Research, Cairo, Egypt
- Enza Torre
- Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, Milan 20145, Italy; Department of Psychology, Catholic University of the Sacred Heart, Milan 20123, Italy
- Daniela Tavian
- Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, Milan 20145, Italy; Department of Psychology, Catholic University of the Sacred Heart, Milan 20123, Italy
- Laura Moro
- Department of Pharmaceutical Sciences, University of Piemonte Orientale, Novara 28100, Italy
- Corrado Angelini
- Neuromuscular Lab, Department of Neurosciences, University of Padova, Campus Biomedico Pietro D'Abano, Padova 35131, Italy
- Tawhida Y. Abdel Ghaffar
- Yassin Abdel Ghaffar Center for Liver Disease and Research, Cairo, Egypt
- Khalid Zalata
- Yassin Abdel Ghaffar Center for Liver Disease and Research, Cairo, Egypt
- Enas Ezzeldein Fahmy
- Yassin Abdel Ghaffar Center for Liver Disease and Research, Cairo, Egypt
- Sara Missaglia
- Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, Milan 20145, Italy; Department of Psychology, Catholic University of the Sacred Heart, Milan 20123, Italy; Corresponding author. Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS Catholic University of the Sacred Heart, Largo Gemelli 1, Milan 120123, Italy.
- Journal volume & issue
-
Vol. 10,
no. 3
pp. 690 – 693