A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings
Autor: | Santos-Rebouças, Cíntia B., Boy, Raquel, Fernandes, Gabriela N.S., Gonçalves, Andressa P., Abdala, Bianca B., Gonzalez, Lucas G.C., dos Santos, Jussara M., Pimentel, Márcia M.G. |
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Zdroj: | In European Journal of Medical Genetics April 2023 66(4) |
Databáze: | ScienceDirect |
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