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Phenotype of FOXP2 Haploinsufficiency in a Mother and Son

Disruptions in FOXP2, a transcription factor, are the only known monogenic cause of speech and language impairment. We report clinical findings for two new individuals with a submicroscopic deletion of FOXP2: a boy with severe apraxia of speech and his currently moderately affected mother. A 1.57 Mb...

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Detalhes bibliográficos
Main Authors: Rice, Gregory M., Raca, Gordana, Jakielski, Kathy J., Laffin, Jennifer J., Iyama-Kurtycz, Christina M., Hartley, Sigan L., Sprague, Rae E., Heintzelman, Anne T., Shriberg, Lawrence D.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3319495/
https://ncbi.nlm.nih.gov/pubmed/22106036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34354
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