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

@inproceedings{Ceroni2014HomozygousMO,
  title={Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment},
  author={Fabiola Ceroni and Nuala H Simpson and Clyde Francks and Gillian Baird and Gina Conti-Ramsden and Ann E. Clark and Patrick F. Bolton and Elizabeth R. Hennessy and Patrick Donnelly and David Ronald Bentley and Hilary C Martin and Jeremy R Parr and Alistair T Pagnamenta and Elena Maestrini and Elena Bacchelli and Simon E Fisher and Dianne F. Newbury},
  booktitle={European Journal of Human Genetics},
  year={2014}
}
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 the ZNF277 gene (NM_021994.2), encompassing exon 5, in an individual with severe receptive and expressive language impairment. The microdeletion was not found in the proband’s affected sister or her brother who had mild language… CONTINUE READING
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