Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia

Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases have been described. We characterize 13 patients with DVD—5 with hemizygous paternal deletions spanning the FOXP2 gene, 1 with a translocation interrupting FOXP2, and the remaining 7 with maternal uniparental disomy...

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Autors principals: Feuk, Lars, Kalervo, Aino, Lipsanen-Nyman, Marita, Skaug, Jennifer, Nakabayashi, Kazuhiko, Finucane, Brenda, Hartung, Danielle, Innes, Micheil, Kerem, Batsheva, Nowaczyk, Małgorzata J., Rivlin, Joseph, Roberts, Wendy, Senman, Lili, Summers, Anne, Szatmari, Peter, Wong, Virginia, Vincent, John B., Zeesman, Susan, Osborne, Lucy R., Cardy, Janis Oram, Kere, Juha, Scherer, Stephen W., Hannula-Jouppi, Katariina
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Human Genetics 2006
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1698557/
https://ncbi.nlm.nih.gov/pubmed/17033973
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