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Article

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

European journal of human genetics : EJHG - 1 Oct 2014

Ceroni Fabiola, Simpson Nuala H, Francks Clyde, Baird Gillian, Conti-Ramsden Gina, Clark Ann, Bolton Patrick F, Hennessy Elizabeth R, Donnelly Peter, Bentley David R, Martin Hilary, Parr Jeremy, Pagnamenta Alistair T, Maestrini Elena, Bacchelli Elena, Fisher Simon E, Newbury Dianne F

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24518835
DOI: 10.1038/ejhg.2014.4
PMCID: PMC4169542

Genes

DOCK4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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