Publication
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature
Francisco Galán, Bert L. Callewaert, Bart L. Loeys, Anna Ficcadenti, Sascha Vermeer, Magnus Landgren, Hester Y. Kroes, Yuval Yaron, Michael Pope, Nicola Foulds, Odile Boute, Helen Kingston, Nathalie Van der Aa, Iratxe Salcedo, Marielle E. Swinkels, Carina Wallgren-Pettersson, Orazio Gabrielli, Julie De Backer, Paul J. Coucke, Anne M. De Paepe
Human Mutation, November 2008, Wiley
DOI: 10.1002/humu.20854