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A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment

FOXP1 (forkhead box protein P1) is a transcription factor involved in the development of several tissues, including the brain. An emerging phenotype of patients with protein-disrupting FOXP1 variants includes global developmental delay, intellectual disability and mild to severe speech/language defi...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Eur J Hum Genet
Päätekijät: Lozano, Reymundo, Vino, Arianna, Lozano, Cristina, Fisher, Simon E, Deriziotis, Pelagia
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2015
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795189/
https://ncbi.nlm.nih.gov/pubmed/25853299
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.66
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