A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of pediatric genetics"
DOI: 10.1055/s-0040-1710330
Abstract: De novo heterozygous mutations in the KAT6A gene give rise to a distinct intellectual disability syndrome, with features including speech delay, cardiac anomalies, craniofacial dysmorphisms, and craniosynostosis. Here, we reported a 16-year-old girl with a… read more here.
Keywords: mutation kat6a; kat6a associated; pancraniosynostosis; frameshift mutation ... See more keywords
The Expression of Histone Acetyltransferase KAT6A in Non-small Cell Lung Cancer
Sign Up to like & getrecommendations! Published in 2022 at "AntiCancer Research"
DOI: 10.21873/anticanres.16080
Abstract: Background/Aim: KAT6A is considered a factor influencing carcinogenesis. Due to the fact that lung cancer is one of the leading causes of death, the aim of our study was to evaluate KAT6A expression in non-small… read more here.
Keywords: lung cancer; cell; expression; lung ... See more keywords