Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
52 auth. Charlotte Guillouet, Valeria Agostini, Geneviève Baujat, D. Cocciadiferro, T. Pippucci, Marion Lesieur-Sebellin, Mathieu Georget, Ulrich A. Schatz, Christine Fauth, R. Louie, Curtis Rogers, Jessica M. Davis, V. Konstantopoulou, Johannes A. Mayr, A. Bouman, ... Martina Wilke, G. VanNoy, E. England, Kristen L. Park, Kathleen Brown, M. Saenz, A. Novelli, M. Digilio, G. Mastromoro, M. Rongioletti, Gerardo Piacentini, R. Kaiyrzhanov, S. Guliyeva, Lala Hasanova, Deborah Shears, Ishita Bhatnagar, K. Stals, Oliver Klaas, Judit Horvath, Patrice Bouvagnet, P. D. Witmer, G. MacCarrick, Katarina Cisarova, Jean-Marc Good, Svetlana Gorokhova, O. Boute, T. Smol, A. Bruel, O. Patat, Julia R. Broadbent, T. Tan, Natalie B. Tan, S. Lyonnet, T. Busa, C. Graziano, J. Amiel, Chris Gordon