Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants

Abstract Background Recent studies suggest that duplication of the 9p24.3 chromosomal locus, which includes the DOCK8 and KANK1 genes, is associated with autism spectrum disorders (ASD), intellectual disability/developmental delay (ID/DD), learning problems, language disorders, hyperactivity, and ep...

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Bibliographic Details
Main Authors: Zuzana Capkova, Pavlina Capkova, Josef Srovnal, Katerina Adamova, Martin Prochazka, Marian Hajduch
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.1592