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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,...

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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Becker, Martin, Devanna, Paolo, Fisher, Simon E., Vernes, Sonja C.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4546047/
https://ncbi.nlm.nih.gov/pubmed/26300977
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0173-0
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