A novel <em>ABHD5</em> 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

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

Short communication | 更新时间：2023-08-29

- A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype
- A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype
- Genes & Diseases 2023年10卷第3期
- 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
  中图分类号：
- 纸质出版日期：2023，
  
  网络出版日期：2023-5-1，
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Solaf Mohamed Elsayed, Enza Torre, Daniela Tavian, 等. A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype[J]. Genes & Diseases, 2023,10(3).

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

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, 2023,10(3). 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

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

DOI：10.1016/j.gendis.2022.08.005

摘要

Abstract

关键词

Keywords

references