Cargando…
Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability
We report on three nonrelated patients with intellectual disability and CNVs that give rise to three new chimeric genes. All the genes forming these fusion transcripts may have an important role in central nervous system development and/or in gene expression regulation, and therefore not only their...
Autores principales: | Mayo, Sonia, Monfort, Sandra, Roselló, Mónica, Orellana, Carmen, Oltra, Silvestre, Caro-Llopis, Alfonso, Martínez, Francisco |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5463148/ https://www.ncbi.nlm.nih.gov/pubmed/28630856 http://dx.doi.org/10.1155/2017/4798474 |
Ejemplares similares
-
Prevalence of pathogenic copy number variants among children conceived by donor oocyte
por: Monfort, Sandra, et al.
Publicado: (2021) -
In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients
por: Mayo, Sonia, et al.
Publicado: (2015) -
Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies
por: Martínez, Francisco, et al.
Publicado: (2010) -
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
por: O’Rawe, Jason A., et al.
Publicado: (2015) -
Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes
por: Rahman, Muhammad M., et al.
Publicado: (2019)