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Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies Marcello.

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Presentation on theme: "Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies Marcello."— Presentation transcript:

1 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 The American Journal of Human Genetics Volume 96, Issue 5, Pages 816-825 (May 2015) DOI: 10.1016/j.ajhg.2015.03.001 Copyright © 2015 The Authors Terms and Conditions Terms and Conditions

2 Figure 1 The American Journal of Human Genetics 2015 96, 816-825DOI: (10.1016/j.ajhg.2015.03.001) Copyright © 2015 The Authors Terms and Conditions Terms and Conditions

3 Figure 2 The American Journal of Human Genetics 2015 96, 816-825DOI: (10.1016/j.ajhg.2015.03.001) Copyright © 2015 The Authors Terms and Conditions Terms and Conditions

4 Figure 3 The American Journal of Human Genetics 2015 96, 816-825DOI: (10.1016/j.ajhg.2015.03.001) Copyright © 2015 The Authors Terms and Conditions Terms and Conditions

5 Figure 4 The American Journal of Human Genetics 2015 96, 816-825DOI: (10.1016/j.ajhg.2015.03.001) Copyright © 2015 The Authors Terms and Conditions Terms and Conditions

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