Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly

Genetics in Medicine, Published online: 06 July 2021; doi:10.1038/s41436-021-01264-0

Source: Genetics in Medicine - July 6, 2021 Category: Genetics & Stem Cells Authors: Jennifer Morrison Norah K. Altuwaijri Kirsten Br ønstad Henriette Aksnes Hessa S. Alsaif Anthony Evans Mais Hashem Patricia G. Wheeler Bryn D. Webb Fowzan S. Alkuraya Thomas Arnesen Source Type: research