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BMJ Publishing Group, Journal of Medical Genetics, 5(57), p. 289-295, 2019

DOI: 10.1136/jmedgenet-2019-106277

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Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach

Journal article published in 2019 by Patrizia Sarogni, Maria M. Pallotta, Antonio Musio ORCID
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Abstract

Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by multisystemic malformations. CdLS is due to pathogenetic variants inNIPBL,SMC1A,SMC3,RAD21andHDAC8genes 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.