A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathyA novel <i>NAA10</i> variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy, Published online: 10 May 2018; doi:10.1038/s41431-018-0136-0A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

Source: European Journal of Human Genetics - May 10, 2018 Category: Genetics & Stem Cells Authors: Svein Isungset St øve Marina Blenski Asbj ørg Stray-Pedersen Klaas J. Wierenga Shalini N. Jhangiani Zeynep Coban Akdemir David Crawford Nina McTiernan Line M. Myklebust Gabriela Purcarin Rene McNall-Knapp Alexandrea Wadley John W. Belmont Jeffrey J. Kim Source Type: research