Ontology highlight
ABSTRACT:
SUBMITTER: Pistocchi A
PROVIDER: S-EPMC3824680 | biostudies-literature | 2013 Oct
REPOSITORIES: biostudies-literature
Pistocchi A A Fazio G G Cereda A A Ferrari L L Bettini L R LR Messina G G Cotelli F F Biondi A A Selicorni A A Massa V V
Cell death & disease 20131017
Cornelia de Lange Syndrome is a severe genetic disorder characterized by malformations affecting multiple systems, with a common feature of severe mental retardation. Genetic variants within four genes (NIPBL (Nipped-B-like), SMC1A, SMC3, and HDAC8) are believed to be responsible for the majority of cases; all these genes encode proteins that are part of the 'cohesin complex'. Cohesins exhibit two temporally separated major roles in cells: one controlling the cell cycle and the other involved in ...[more]