Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
American Journal Of Human Genetics
Niceta, Marcello M; Stellacci, Emilia E; Gripp, Karen W KW; Zampino, Giuseppe G; Kousi, Maria M; Anselmi, Massimiliano M; Traversa, Alice A; Ciolfi, Andrea A; Stabley, Deborah D; Bruselles, Alessandro A; Caputo, Viviana V; Cecchetti, Serena S; Prudente, Sabrina S; Fiorenza, Maria T MT; Boitani, Carla C; Philip, Nicole N; Niyazov, Dmitriy D; Leoni, Chiara C; Nakane, Takaya T; Keppler-Noreuil, Kim K; Braddock, Stephen R SR; Gillessen-Kaesbach, Gabriele G; Palleschi, Antonio A; Campeau, Philippe M PM; Lee, Brendan H L BH; Pouponnot, Celio C; Stella, Lorenzo L; Bocchinfuso, Gianfranco G; Katsanis, Nicholas N; Sol-Church, Katia K; Tartaglia, Marco M