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Diagnostic Path of a Genetic Disease: A Case of Williams-Beuren Syndrome in Burkina Faso
Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by a set of somatic, psychological, and behavioral abnormalities, which is caused by a deletion of several genes. Herein we report a 6 year-old boy, who presented with mental retardation and psychological disorders. T...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
PAGEPress Publications, Pavia, Italy
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4689988/ https://www.ncbi.nlm.nih.gov/pubmed/26734123 http://dx.doi.org/10.4081/pr.2015.5817 |