Novel clinical and genetic insight into CXorf56-associated intellectual disability

Intellectual disability (ID) is one of most frequent reasons for genetic consultation. The complex molecular anatomy of ID ranges from complete chromosomal imbalances to single nucleotide variant changes occurring de novo, with thousands of genes identified. This extreme genetic heterogeneity challe...

Descripción completa

Detalles Bibliográficos
Autores principales: Rocha, Maria Eugenia, Silveira, Tainá Regina Damaceno, Sasaki, Erina, Sás, Daíse Moreno, Lourenço, Charles Marques, Kandaswamy, Krishna K., Beetz, Christian, Rolfs, Arndt, Bauer, Peter, Reardon, Willie, Bertoli-Avella, Aida M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7028711/
https://www.ncbi.nlm.nih.gov/pubmed/31822863
http://dx.doi.org/10.1038/s41431-019-0558-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7028711/
https://www.ncbi.nlm.nih.gov/pubmed/31822863
http://dx.doi.org/10.1038/s41431-019-0558-3

Ejemplares similares