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A chromosomal rearrangement in a child with severe speech and language disorder separates FOXP2 from a functional enhancer
Mutations of FOXP2 in 7q31 cause a rare disorder involving speech apraxia, accompanied by expressive and receptive language impairments. A recent report described a child with speech and language deficits, and a genomic rearrangement affecting chromosomes 7 and 11. One breakpoint mapped to 7q31 and,...
Autores principales: | Becker, Martin, Devanna, Paolo, Fisher, Simon E., Vernes, Sonja C. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546047/ https://www.ncbi.nlm.nih.gov/pubmed/26300977 http://dx.doi.org/10.1186/s13039-015-0173-0 |
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