Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1

Haploinsufficiency of Forkhead box protein P1 (FOXP1), a highly conserved transcription factor, leads to developmental delay, intellectual disability, autism spectrum disorder, speech delay, and dysmorphic features. Most of the reported FOXP1 mutations occur on the C-terminus of the protein and clus...

Descripción completa

Detalles Bibliográficos
Autores principales: Johnson, Tyler B., Mechels, Keegan, Anderson, Ruth Ellen, Cain, Jacob T., Sturdevant, David A., Braddock, Stephen, Pinz, Hailey, Wilson, Mark A., Landsverk, Megan, Roux, Kyle J., Weimer, Jill M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6212433/
https://www.ncbi.nlm.nih.gov/pubmed/30385778
http://dx.doi.org/10.1038/s41598-018-34437-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6212433/
https://www.ncbi.nlm.nih.gov/pubmed/30385778
http://dx.doi.org/10.1038/s41598-018-34437-0

Ejemplares similares