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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BMJ Publishing Group
2020
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| 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 |