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Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia
Authors:Sirmaci Asli  Spiliopoulos Michail  Brancati Francesco  Powell Eric  Duman Duygu  Abrams Alex  Bademci Guney  Agolini Emanuele  Guo Shengru  Konuk Berrin  Kavaz Asli  Blanton Susan  Digilio Maria Christina  Dallapiccola Bruno  Young Juan  Zuchner Stephan  Tekin Mustafa
Institution:1John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA;2Dr. John T. Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA;3Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Casa Sollievo della Sofferenza, San Giovanni Rotondo, Mendel Laboratory, 00198 Rome, Italy;4Department of Biopathology and Diagnostic Imaging, Tor Vergata University, 00133 Rome, Italy;5Department of Biomedical Sciences, d'Annunzio University, 66100 Chieti, Italy;6Division of Pediatric Genetics, Ankara University School of Medicine, 06100 Ankara, Turkey;7IRCCS Bambino Gesù Children Hospital, 00198 Rome, Italy
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