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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 ANKRD11 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 aims at delineating th...
Autores principales: | Alfieri, Paolo, Caciolo, Cristina, Lazzaro, Giulia, Menghini, Deny, Cumbo, Francesca, Dentici, Maria Lisa, Digilio, Maria Cristina, Gnazzo, Maria, Demaria, Francesco, Pironi, Virginia, Zampino, Giuseppe, Novelli, Antonio, Tartaglia, Marco, Vicari, Stefano |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8038739/ https://www.ncbi.nlm.nih.gov/pubmed/33917340 http://dx.doi.org/10.3390/jcm10071523 |
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