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

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Ceroni, F.; Simpson, N.; Francks, C.; Baird, G.; Conti-Ramsden, G.; Clark, A.; Bolton, P.; Hennessy, E.; Donnelly, P.; Bentley, D.; Martin, H.; Parr, J.; Pagnamenta, A.; Maestrini, E.; Bacchelli, E.; Fisher, S.; Newbury, D.;

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