Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa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

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

Authors:	Hassan Vahidnezhad Leila Youssefian Amir Hossein Saeidian Andrew Touati Soheila Sotoudeh Ali Jazayeri Alyson Guy Patricia A. Lovell Lu Liu Ariana Kariminejad John A. McGrath Sirous Zeinali Jouni Uitto

Affiliation:	1. Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA;2. Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran;3. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran;4. Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, PA, USA;5. Drexel University College of Medicine, Philadelphia, PA, USA;6. Department of Dermatology, Children's Medical Center, Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran;7. Department of Information Science, College of Computing and Informatics, Drexel University, Philadelphia, PA, USA;8. Viapath, St Thomas’ Hospital, London, UK;9. Kariminejad‐Najmabadi Pathology & Genetics Center, Tehran, Iran;10. Institute of Dermatology, King's College London, Guy's Hospital, London, UK;11. Kawsar Human Genetics Research Center, Tehran, Iran

Abstract:

Keywords:	epidermolysis bullosa EXPH5 COL17A1 genotype– phenotype correlations heritable blistering diseases Mendelian skin disorders mutation detection RNAseq

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