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Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review
BACKGROUND: Cornelia de Lange syndrome (CdLS) is a genetic disorder caused by variants in cohesion genes including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. According to the 2018 consensus statement, a patient with clinical scored ≥ 11 points could be diagnosed as CdLS. However, some variants in non-coh...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9355708/ https://www.ncbi.nlm.nih.gov/pubmed/35935361 http://dx.doi.org/10.3389/fped.2022.940294 |