Nature Genetics online: December 11, 2011 Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome Carine Le Goff, Clémentine Mahaut, Avinash Abhyankar, Wilfried Le Goff, Valérie Serre, Alexandra Afenjar, Anne Destrée, Maja di Rocco, Delphine Héron, Sébastien Jacquemon...