Show 50 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author exact 001993277854 cql: author exact 802000508678 Add to list Journal Article A1 The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2) Delfien Syx (UGent) , Fransiska Malfait (UGent) , Lut Van Laer (UGent) , Jan Hellemans, T Hermanns-Le, Andy Willaert (UGent) , A Benmansour, Anne De Paepe (UGent) and A Verloes (2010) HUMAN GENETICS. 128(1). p.79-88 Add to list Journal Article A1 Musculocontractural ehlers-danlos syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene Fransiska Malfait (UGent) , Delfien Syx (UGent) , Philip Vlummens (UGent) , Sofie Symoens (UGent) , Sheela Nampoothiri, Trinh Hermanns-Le, Lut Van Laer (UGent) and Anne De Paepe (UGent) (2010) HUMAN MUTATION. 31(11). p.1233-1239