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...

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Detalles Bibliográficos
Autores principales: Bozarth, Xiuhua L., Lopez, Jonathan, Fang, He, Lee-Eng, Jacqueline, Duan, Zhijun, Deng, Xinxian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10138066/
https://www.ncbi.nlm.nih.gov/pubmed/37107610
http://dx.doi.org/10.3390/genes14040852

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