A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis.
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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