TY - JOUR T1 - Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach JF - Journal of Medical Genetics JO - J Med Genet SP - 289 LP - 295 DO - 10.1136/jmedgenet-2019-106277 VL - 57 IS - 5 AU - Patrizia Sarogni AU - Maria M Pallotta AU - Antonio Musio Y1 - 2020/05/01 UR - http://jmg.bmj.com/content/57/5/289.abstract N2 - Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by multisystemic malformations. CdLS is due to pathogenetic variants in NIPBL, SMC1A, SMC3, RAD21 and HDAC8 genes which belong to the cohesin pathway. Cohesin plays a pivotal role in chromatid cohesion, gene expression, and DNA repair. In this review, we will discuss how perturbations in those biological processes contribute to CdLS phenotype and will emphasise the state-of-art of CdLS therapeutic approaches. ER -