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

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 epilepsy....

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Bibliografski detalji
Izdano u:Mol Genet Genomic Med
Glavni autori: Capkova, Zuzana, Capkova, Pavlina, Srovnal, Josef, Adamova, Katerina, Prochazka, Martin, Hajduch, Marian
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2021
Teme:
Clinical Reports
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8104183/
https://ncbi.nlm.nih.gov/pubmed/33455084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1592
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