A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome

Cornelia de Lange syndrome (CdLS) is a multisystemic genetic disorder characterized by distinctive facial features, growth retardation, and intellectual disability, as well as various systemic conditions. It is caused by genetic variants in genes related to the cohesin complex. Single-nucleotide var...

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Detalles Bibliográficos
Autores principales: Lucia-Campos, Cristina, Valenzuela, Irene, Latorre-Pellicer, Ana, Ros-Pardo, David, Gil-Salvador, Marta, Arnedo, María, Puisac, Beatriz, Castells, Neus, Plaja, Alberto, Tenes, Anna, Cuscó, Ivon, Trujillano, Laura, Ramos, Feliciano J., Tizzano, Eduardo F., Gómez-Puertas, Paulino, Pié, Juan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9408140/
https://www.ncbi.nlm.nih.gov/pubmed/36011323
http://dx.doi.org/10.3390/genes13081413

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