A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.

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Published in Mol Syndromol on March 15, 2016

Authors

Linda K Rey1, Jürgen Kohlhase2, Katrin Möllenhoff3, Gabriele Dekomien1, Jörg T Epplen4, Sabine Hoffjan1

Author Affiliations

1: Departments of Human Genetics, University Witten/Herdecke, Witten, Germany; Departments of Center for Rare Diseases Ruhr (CeSER), Bochum, Germany.
2: Departments of Center for Human Genetics, Freiburg, Germany.
3: Departments of Dermatology, Venereology and Allergology, Ruhr-University Bochum, Germany; Departments of Center for Rare Diseases Ruhr (CeSER), Bochum, Germany.
4: Departments of Human Genetics, University Witten/Herdecke, Witten, Germany; Departments of Center for Rare Diseases Ruhr (CeSER), Bochum, Germany; Departments of Faculty of Health, University Witten/Herdecke, Witten, Germany.

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