Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome

Ultimate advances in genetic technologies have permitted the detection of transmitted cases of congenital diseases due to parental gonadosomatic mosaicism. Regarding Cornelia de Lange syndrome (CdLS), up to date, only a few cases are known to follow this inheritance pattern. However, the high preval...

Descripción completa

Detalles Bibliográficos
Autores principales: Gil-Salvador, Marta, Latorre-Pellicer, Ana, Lucia-Campos, Cristina, Arnedo, María, Darnaude, María Teresa, Díaz de Bustamante, Aránzazu, Villares, Rebeca, Palma Milla, Carmen, Puisac, Beatriz, Musio, Antonio, Ramos, Feliciano J., Pié, Juan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554350/
https://www.ncbi.nlm.nih.gov/pubmed/36246631
http://dx.doi.org/10.3389/fgene.2022.993064

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554350/
https://www.ncbi.nlm.nih.gov/pubmed/36246631
http://dx.doi.org/10.3389/fgene.2022.993064

Ejemplares similares