PT  - JOURNAL ARTICLE
AU  - Patrizia Sarogni
AU  - Maria M Pallotta
AU  - Antonio Musio
TI  - Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach
AID  - 10.1136/jmedgenet-2019-106277
DP  - 2020 May 01
TA  - Journal of Medical Genetics
PG  - 289--295
VI  - 57
IP  - 5
4099  - http://jmg.bmj.com/content/57/5/289.short
4100  - http://jmg.bmj.com/content/57/5/289.full
SO  - J Med Genet2020 May 01; 57
AB  - 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.