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.