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- Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiencySarah Verheyen, Jasmin Blatterer, Michael R Speicher, Gandham SriLakshmi Bhavani, Geert-Jan Boons, Mai-Britt Ilse, Dominik Andrae, Jens Sproß, Frédéric Maxime Vaz, Susanne G Kircher, Laura Posch-Pertl, Daniela Baumgartner, Torben Lübke, Hitesh Shah, Ali Al Kaissi, Katta M Girisha, Barbara PleckoJournal of Medical Genetics Dec 2021, jmedgenet-2021-108061; DOI: 10.1136/jmedgenet-2021-108061
- Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndromeSilke Peeters, Arne Decramer, Stuart Alan Cain, Peter Houpt, Frederik Verstreken, Jan Noyez, Christophe Hermans, Werner Jacobs, Martin Lammens, Erik Fransen, Ajay Anand Kumar, Geert Vandeweyer, Bart Loeys, Wim Van Hul, Clair Baldock, Eveline Boudin, Geert MortierJournal of Medical Genetics Nov 2021, 58 (11) 778-782; DOI: 10.1136/jmedgenet-2020-107085
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