Publication
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies
Takaya Nakane, Kim Keppler-Noreuil, Stephen R. Braddock, Gabriele Gillessen-Kaesbach, Antonio Palleschi, Philippe M. Campeau, Brendan H.L. Lee, Celio Pouponnot, Lorenzo Stella, Gianfranco Bocchinfuso, Nicholas Katsanis, Katia Sol-Church, Marco Tartaglia, Marcello Niceta, Emilia Stellacci, Karen W. Gripp, Giuseppe Zampino, Maria Kousi, Massimiliano Anselmi, Alice Traversa, Andrea Ciolfi, Deborah Stabley, Alessandro Bruselles, Viviana Caputo, Serena Cecchetti, Sabrina Prudente, Maria T. Fiorenza, Carla Boitani, Nicole Philip, Dmitriy Niyazov, Chiara Leoni
The American Journal of Human Genetics, May 2015, Elsevier
DOI: 10.1016/j.ajhg.2015.03.001