Cargando…
Functional characterization of rare FOXP2 variants in neurodevelopmental disorder
BACKGROUND: Heterozygous disruption of FOXP2 causes a rare form of speech and language impairment. Screens of the FOXP2 sequence in individuals with speech/language-related disorders have identified several rare protein-altering variants, but their phenotypic relevance is often unclear. FOXP2 encode...
Autores principales: | Estruch, Sara B., Graham, Sarah A., Chinnappa, Swathi M., Deriziotis, Pelagia, Fisher, Simon E. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126810/ https://www.ncbi.nlm.nih.gov/pubmed/27933109 http://dx.doi.org/10.1186/s11689-016-9177-2 |
Ejemplares similares
-
Functional characterization of TBR1 variants in neurodevelopmental disorder
por: den Hoed, Joery, et al.
Publicado: (2018) -
The language-related transcription factor FOXP2 is post-translationally modified with small ubiquitin-like modifiers
por: Estruch, Sara B., et al.
Publicado: (2016) -
Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions
por: Sollis, Elliot, et al.
Publicado: (2022) -
Neurogenomics of speech and language disorders: the road ahead
por: Deriziotis, Pelagia, et al.
Publicado: (2013) -
Conserved regulation of neurodevelopmental processes and behavior by FoxP in Drosophila
por: Castells-Nobau, Anna, et al.
Publicado: (2019)