Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility.
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M. Simpson | J. McGrath | M. Parsons | Lu Liu | S. Aristodemou | E. Rashidghamat | Magdalene Michael | J. Y. Lee | Amira M. Tawdy | Assem Farag | C. Hsu