Ontology highlight
ABSTRACT:
SUBMITTER: Efthymiou S
PROVIDER: S-EPMC6087480 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Efthymiou Stephanie S Salpietro Vincenzo V Bettencourt Conceicao C Houlden Henry H
Journal of pediatric genetics 20180614 3
Mutations in <i>KAT6A</i> encoding a histone acetyltransferase involved in chromatin remodeling and in other genes involved in histone acetylation and/or deacetylation have been implicated in broad phenotypes of congenital and developmental abnormalities. However, limited genotype-phenotype correlations are available for some of the most rare or recently reported genetic disorders related to chromatin dysregulation. We hereby report a de novo truncating mutation in <i>KAT6A</i> (c.3338C > G; p.S ...[more]