Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.

Article English OPEN
Ceroni F ; Simpson NH ; Francks C ; Baird G ; Conti-Ramsden G ; Clark A ; Bolton PF ; Hennessy ER ; Donnelly P ; Bentley DR ; Martin H ; Parr J ; Pagnamenta AT ; Maestrini E ; Bacchelli E ; Fisher SE ; Newbury DF (2014)
  • Publisher: Nature Publishing Group
  • Journal: European Journal of Human Genetics, volume 22, issue 10, pages 1,165-1,171 (issn: 1018-4813, eissn: 1476-5438)
  • Related identifiers: pmc: PMC4169542, doi: 10.1038/ejhg.2014.4
  • Subject: SLI | LANGUAGE | ZNF277 | Article
    mesheuropmc: behavioral disciplines and activities

Specific language impairment (SLI), an unexpected failure to develop appropriate language skills despite adequate non-verbal intelligence, is a heterogeneous multifactorial disorder with a complex genetic basis. We identified a homozygous microdeletion of 21,379 bp in t... View more