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8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy
8q22.2q22.3 microdeletion syndrome has been described in only seven patients. We present a new case from Colombia. The characteristics of this condition are developmental delay, microcephaly, seizures, and typical facial dysmorphism. We discuss the clinical phenotype of the patient presenting releva...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348808/ https://www.ncbi.nlm.nih.gov/pubmed/30733878 http://dx.doi.org/10.1155/2019/7608348 |