A novel <em>ABHD5</em> mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype

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

Short communication | 更新时间：2023-08-29

- A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype
- Genes & Diseases Vol. 10, Issue 3, (2023)
- 作者机构：
  
  1. Department of Pharmaceutical Sciences, University of Piemonte Orientale,Novara,Italy,28100
  2. Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, Milan,Italy,20145
  3. Medical Genetics Department, Faculty of Medicine, Ain Shams University,Cairo,Egypt
  4. Department of Psychology, Catholic University of the Sacred Heart, Milan,Italy,20123
  5. Neuromuscular Lab, Department of Neurosciences, University of Padova, Campus Biomedico Pietro D'Abano, Padova,Italy,35131
  6. Yassin Abdel Ghaffar Center for Liver Disease and Research,Cairo,Egypt
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2022.08.005
  CLC：
- Published：2023，
  
  Published Online：1 May 2023，
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Solaf Mohamed Elsayed, Enza Torre, Daniela Tavian, et al. A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype. [J]. Genes & Diseases 10(3).(2023)
DOI：

Solaf Mohamed Elsayed, Enza Torre, Daniela Tavian, et al. A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype. [J]. Genes & Diseases 10(3).(2023) DOI： 10.1016/j.gendis.2022.08.005.

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