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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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Publicado en: | Mol Cytogenet |
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Autores principales: | , , , , , |
Formato: | Artigo |
Lenguaje: | Inglês |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4404611/ https://ncbi.nlm.nih.gov/pubmed/25901181 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0129-4 |
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