Mutations in the ESCO2 gene are associated with a rare genetic disorder known as Roberts Syndrome. This condition is characterized by pre- and postnatal growth retardation, limb malformations, and craniofacial abnormalities, which can be observed in tissue samples obtained from affected individuals. The abnormal cellular cohesion due to defective ESCO2 can be identified through histological techniques, aiding in the diagnosis and understanding of the disorder.
