Publication
Kohlschütter-Tönz Syndrome: Mutations inROGDIand Evidence of Genetic Heterogeneity
Arianna Tucci, Eleanna Kara, Anna Schossig, Nicole I. Wolf, Vincent Plagnol, Katherine Fawcett, Coro Paisán-Ruiz, Matthew Moore, Dena Hernandez, Sebastiano Musumeci, Michael Tennison, Raoul Hennekam, Silvia Palmeri, Alessandro Malandrini, Salmo Raskin, Dian Donnai, Corina Hennig, Andreas Tzschach, Roel Hordijk, Thomas Bast, Katharina Wimmer, Chien-Ning Lo, Simon Shorvon, Heather Mefford, Evan E. Eichler, Roger Hall, Ian Hayes, John Hardy, Andrew Singleton, Johannes Zschocke, Henry Houlden
Human Mutation, November 2012, Wiley
DOI: 10.1002/humu.22241