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Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions
Terminal microdeletions of the long arm of chromosome 6 are associated with a phenotype that includes multiple brain malformations, intellectual disability, and epilepsy. A 1.7-Mb region has been proposed to contain a gene responsible for the brain anomalies. Here, we present the case of a 12-year-o...
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| Publicado no: | Mol Syndromol |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6738255/ https://ncbi.nlm.nih.gov/pubmed/31602192 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000501008 |
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