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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....
Autores principales: | , , , , , |
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Format: | Online Artículo Texto |
Sprog: | English |
Udgivet: |
John Wiley and Sons Inc.
2021
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Fag: | |
Online adgang: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8104183/ https://www.ncbi.nlm.nih.gov/pubmed/33455084 http://dx.doi.org/10.1002/mgg3.1592 |