Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations

Charlotte Guillouet, Valeria Agostini, Geneviève Baujat, Dario Cocciadiferro, Tommaso Pippucci, Marion Lesieur-Sebellin, Mathieu Georget, Ulrich Schatz, Christine Fauth, Raymond J Louie, Curtis Rogers, Jessica M Davis, Vassiliki Konstantopoulou, Johannes A. Mayr, Arjan Bouman, Martina Wilke, Grace E. VanNoy, Eleina M England, Kristen L Park, Kathleen Brown, Margarita Saenz, Antonio Novelli, Maria Cristina Digilio, Gioia Mastromoro, Mauro Ciro Antonio Rongioletti, Gerardo Piacentini, Rauan Kaiyrzhanov, Sughra Guliyeva, Lala Hasanova, Deborah Shears, Ishita Bhatnagar, Karen Stals, Oliver Klaas, Judit Horvath, Patrice Bouvagnet, P Dane Witmer, Gretchen MacCarrick, Katarina Cisarova, Jean-Marc Good, Svetlana Gorokhova, Odile Boute, Thomas Smol, Ange-Line Bruel, Olivier Patat, Julia R Broadbent, Tiong Y Tan, Natalie B Tan, Stanislas Lyonnet, Tiffany Busa, Claudio Graziano, Jeanne Amiel, Christopher T Gordon