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...

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Vydáno v:J Clin Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2021
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8038739/
https://ncbi.nlm.nih.gov/pubmed/33917340
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm10071523
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