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

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),...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169542/
https://www.ncbi.nlm.nih.gov/pubmed/24518835
http://dx.doi.org/10.1038/ejhg.2014.4