First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature

Authors:	Nadja Ehmke Nima Parvaneh Peter Krawitz Mahmoud‐Reza Ashrafi Parviz Karimi Mehrzad Mehdizadeh Ulrike Krüger Jochen Hecht Stefan Mundlos Peter N. Robinson

Affiliation:	1. Institute of Medical and Human Genetics, Charité‐Universit?tsmedizin Berlin, Berlin, Germany;2. Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran;3. Research Center for Immunodeficiencies, Tehran University of Medical Sciences, Tehran, Iran;4. Berlin Center for Regenerative Therapies (BCRT), Charité‐Universit?tsmedizin Berlin, Berlin, Germany;5. Max Planck Institute for Molecular Genetics, Berlin, Germany;6. Radiology Division, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran;7. Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universit?t Berlin, Berlin, Germany;8. Correspondence to:;9. Peter N. Robinson, Institute of Medical and Human Genetics Charité‐Universit?tsmedizin Berlin, Augustenburger Platz 1, Berlin 13353, Germany.;10. E‐mail:

Abstract:

Keywords:	agenesis of the corpus callosum, autophagy cardiomyopathy developmental delay EPG5 immunodeficiency hypopigmentation Vici syndrome whole‐exome sequencing