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Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach

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...

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Detalles Bibliográficos
Autores principales:	Sarogni, Patrizia, Pallotta, Maria M, Musio, Antonio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2020
Materias:	Developmental Defects
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231464/ https://www.ncbi.nlm.nih.gov/pubmed/31704779 http://dx.doi.org/10.1136/jmedgenet-2019-106277

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