Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
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,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 American journal of human genetics（2015）
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