Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants
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DOI: 10.1002/mgg3.1592
Abstract: 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.… read more here.
Keywords: duplication; patients phenotypes; unrelated patients; 9p24 three ... See more keywords