Article
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
American journal of medical genetics. Part A - 1 May 2020
Gnazzo Maria, Lepri Francesca R, Dentici Maria Lisa, Capolino Rossella, Pisaneschi Elisa, Agolini Emanuele, Rinelli Martina, Alesi Viola, Versacci Paolo, Genovese Silvia, Cesario Claudia, Sinibaldi Lorenzo, Baban Anwar, Bartuli Andrea, Marino Bruno, Cappa Marco, Dallapiccola Bruno, Novelli Antonio, Digilio Maria Cristina
Abstract excerpt
KBG syndrome (MIM #148050) is an autosomal dominant disorder characterized by developmental delay, intellectual disability, distinct craniofacial anomalies, macrodontia of permanent upper central incisors, skeletal abnormalities, and short stature. This study describes clinical features of 28 patients, confirmed by molecular testing of ANKRD11 gene, and three patients with 16q24 deletion encompassing ANKRD11...
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