A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa.

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第一作者： Veronica,Rotemberg

第一单位： Department of Dermatology, Columbia University, New York, NY. Electronic address: vrotemberg@post.harvard.edu.

作者： Veronica,Rotemberg ^[1] ; Maria,Garzon ^[2] ; Christine,Lauren ^[2] ; Alejandro,Iglesias ^[3] ; Sandhya S,Brachio ^[4] ; Vimla,Aggarwal ^[5] ; Nicholas,Stong ^[6] ; David B,Goldstein ^[7] ; Thomas,Diacovo ^[8]

作者单位： Department of Dermatology, Columbia University, New York, NY. Electronic address: vrotemberg@post.harvard.edu. ^[1] Department of Dermatology, Columbia University, New York, NY; Department of Pediatrics, Columbia University, New York, NY. ^[2] Department of Pediatrics, Columbia University, New York, NY; Department of Clinical Genetics, Columbia University, New York, NY. ^[3] Department of Pediatrics, Columbia University, New York, NY. ^[4] Department of Pathology and Cell Biology, Columbia University, New York, NY. ^[5] Institute for Genomic Medicine, Columbia University, New York, NY. ^[6] Department of Genetics and Development, Columbia University, New York, NY. ^[7] Department of Pediatrics, Columbia University, New York, NY; Department of Pathology and Cell Biology, Columbia University, New York, NY. ^[8]

关键词 Naxos syndrome desmosome junctional plakoglobin (JUP)lethal congenital epidermolysis bullosa skin fragility whole-exome sequencing