Structural Characterization of the Highly Restricted Down Syndrome Critical Region on 21q22.13: New KCNJ6 and DSCR4 Transcript Isoforms

Down syndrome (DS) is caused by trisomy of chromosome 21 and it is the most common genetic cause of intellectual disability (ID) in humans. Subjects with DS show a typical phenotype marked by facial dysmorphisms and ID. Partial trisomy 21 (PT21) is a rare genotype characterized by the duplication of...

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Detalles Bibliográficos
Autores principales: Antonaros, Francesca, Pitocco, Margherita, Abete, Domenico, Vione, Beatrice, Piovesan, Allison, Vitale, Lorenza, Strippoli, Pierluigi, Caracausi, Maria, Pelleri, Maria Chiara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8692863/
https://www.ncbi.nlm.nih.gov/pubmed/34956324
http://dx.doi.org/10.3389/fgene.2021.770359

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8692863/
https://www.ncbi.nlm.nih.gov/pubmed/34956324
http://dx.doi.org/10.3389/fgene.2021.770359

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