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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....
Zapisane w:
| Wydane w: | Mol Genet Genomic Med |
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| Główni autorzy: | , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
John Wiley and Sons Inc.
2021
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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