Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.

Autor: Yabumoto, Megan1,2 (AUTHOR), Kianmahd, Jessica3 (AUTHOR), Singh, Meghna1,2 (AUTHOR), Palafox, Maria F.1,2 (AUTHOR), Wei, Angela2 (AUTHOR), Elliott, Kathryn2 (AUTHOR), Goodloe, Dana H.4 (AUTHOR), Dean, S. Joy4 (AUTHOR), Gooch, Catherine5 (AUTHOR), Murray, Brianna K.6 (AUTHOR), Swartz, Erin6 (AUTHOR), Schrier Vergano, Samantha A.6 (AUTHOR), Towne, Meghan C.7 (AUTHOR), Nugent, Kimberly8,9 (AUTHOR), Roeder, Elizabeth R.8,9 (AUTHOR), Kresge, Christina10 (AUTHOR), Pletcher, Beth A.10 (AUTHOR), Grand, Katheryn11 (AUTHOR), Graham, John M.11 (AUTHOR), Gates, Ryan12 (AUTHOR)
Zdroj: Molecular Genetics & Genomic Medicine. Oct2021, Vol. 9 Issue 10, p1-21. 21p.
Databáze: Academic Search Ultimate
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