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Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach
  1. Patrizia Sarogni,
  2. Maria M Pallotta,
  3. Antonio Musio
  1. Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy
  1. Correspondence to Dr Antonio Musio, Istituto di Ricerca Genetica e Biomedica, Pisa 56124, Italy; antonio.musio{at}


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.

  • cohesin
  • Cornelia de Lange syndrome
  • gene dysregulation
  • genome instability
  • therapeutic approaches

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  • PS and MMP are joint first authors.

  • Contributors PS and MMP wrote the paper. AM conceived the structure and content, wrote and revised the manuscript.

  • Funding This study was funded by Fondazione Pisa.

  • Disclaimer The funder had no involvement.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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