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Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth

We report a male patient with developmental delay carrying an interstitial 4p16.3 deletion of 287 kb, disclosed by oligo array-CGH and inherited from his father with a similar but milder phenotype. This deletion is distal to the Wolf-Hirschhorn syndrome critical regions, but includes the FGFRL1 gene...

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Detalles Bibliográficos
Autores principales:	Matoso, Eunice, Ramos, Fabiana, Ferrão, José, Pires, Luís M, Mascarenhas, Alexandra, Melo, Joana B, Carreira, Isabel M
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4265458/ https://www.ncbi.nlm.nih.gov/pubmed/25506393 http://dx.doi.org/10.1186/s13039-014-0087-2

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