A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.
Eur J Med Genet. 2023 Apr;66(4):104716. doi: 10.1016/j.ejmg.2023.104716. Epub 2023 Jan 30.
Eur J Med Genet. 2023.
PMID: 36731745