Ontology highlight
ABSTRACT:
SUBMITTER: Mfarej MG
PROVIDER: S-EPMC7774850 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Mfarej Michael G MG Skibbens Robert V RV
PLoS genetics 20201231 12
Roberts syndrome (RBS) is a rare developmental disorder that can include craniofacial abnormalities, limb malformations, missing digits, intellectual disabilities, stillbirth, and early mortality. The genetic basis for RBS is linked to autosomal recessive loss-of-function mutation of the establishment of cohesion (ESCO) 2 acetyltransferase. ESCO2 is an essential gene that targets the DNA-binding cohesin complex. ESCO2 acetylates alternate subunits of cohesin to orchestrate vital cellular process ...[more]