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Dysregulation of FOXG1 by ring chromosome 14

In this study we performed molecular characterization of a patient with an extra ring chromosome derived from chromosome 14, with severe intellectual disability, epilepsy, cerebral paresis, tetraplegia, osteoporosis and severe thoraco-lumbal scoliosis. Array CGH analysis did not show any genomic imb...

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Detalles Bibliográficos
Autores principales:	Alosi, Daniela, Klitten, Laura Line, Bak, Mads, Hjalgrim, Helle, Møller, Rikke Steensbjerre, Tommerup, Niels
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404611/ https://www.ncbi.nlm.nih.gov/pubmed/25901181 http://dx.doi.org/10.1186/s13039-015-0129-4

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