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FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.

Miriam S ReuterAngelika RiessUte MoogTracy A BriggsKate E ChandlerAnita RauchMiriam StampferKatharina SteindlDieter GläserPascal Josetnull nullMandy KrumbiegelHarald RabeUta Schulte-MattlerPeter BauerStefanie Beck-WödlJürgen KohlhaseAndré ReisChristiane Zweier
Published in: Journal of medical genetics (2016)
By identifying intragenic deletions or mutations in 14 individuals from eight unrelated families with variable developmental delay/cognitive impairment and speech and language deficits, we considerably broaden the mutational and clinical spectrum associated with aberrations in FOXP2.
Keyphrases
  • regulatory t cells
  • cognitive impairment
  • autism spectrum disorder
  • copy number
  • traumatic brain injury
  • gene expression
  • immune response
  • hearing loss
  • cord blood