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Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy
The X-linked SMC1A gene encodes a core subunit of the cohesin complex that plays a pivotal role in genome organization and gene regulation. Pathogenic variants in SMC1A are often dominant-negative and cause Cornelia de Lange syndrome (CdLS) with growth retardation and typical facial features; howeve...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10138066/ https://www.ncbi.nlm.nih.gov/pubmed/37107610 http://dx.doi.org/10.3390/genes14040852 |