Ontology highlight
ABSTRACT:
SUBMITTER: Park J
PROVIDER: S-EPMC6738162 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Park Joohyun J Colombo Roberto R Schäferhoff Karin K Janiri Luigi L Grimmel Mona M Sturm Marc M Grasshoff Ute U Dufke Andreas A Haack Tobias B TB Kehrer Martin M
Molecular syndromology 20190403 4
Intellectual disability (ID) occurs in approximately 1% of the population. Over the last years, broad sequencing approaches such as whole exome sequencing (WES) substantially contributed to the definition of the molecular defects underlying nonsyndromic ID. Pathogenic variants in <i>HIVEP2</i>, which encodes the human immunodeficiency virus type I enhancer binding protein 2, have recently been reported as a cause of ID, developmental delay, behavioral disorders, and dysmorphic features. HIVEP2 s ...[more]