Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study

Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study

KBG syndrome (KBGS) is a rare Mendelian condition caused by heterozygous mutations in <i>ANKRD11</i> or microdeletions in chromosome 16q24.3 encompassing the gene. KBGS is clinically variable, which makes its diagnosis difficult in a significant proportion of cases. The present study aim...

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Bibliographic Details
Main Authors: Paolo Alfieri, Cristina Caciolo, Giulia Lazzaro, Deny Menghini, Francesca Cumbo, Maria Lisa Dentici, Maria Cristina Digilio, Maria Gnazzo, Francesco Demaria, Virginia Pironi, Giuseppe Zampino, Antonio Novelli, Marco Tartaglia, Stefano Vicari
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Journal of Clinical Medicine
Subjects:
<i>ANKRD11</i>
16q24.3
cognitive abilities
adaptive functioning
intellectual disabilities
Online Access:https://www.mdpi.com/2077-0383/10/7/1523

Internet

https://www.mdpi.com/2077-0383/10/7/1523

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