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| Type: | Artigo |
| Title: | 17p13.3 microdeletion: insights on genotype-phenotype correlation |
| Author: | Barros Fontes, M.I. Santos, A.P. dos Rossi, Torres F. Lopes-Cendes, I. Cendes, F. Appenzeller, S. Araujo T. K. de Lopes Monlleó, I. Lopes, V.L.G.S. |
| Abstract: | Microdeletions in the chromosomal region 17p13.3 are associated with neuronal migration disorders, and PAFAB1H1 is the main gene involved. The largest genomic imbalances, including the YWHAE and CRK genes, cause more severe structural abnormalities of the |
| Subject: | Malformações do desenvolvimento cortical do grupo II Malformations of cortical development, Group II |
| Country: | Suíça |
| Editor: | Karger |
| Rights: | Fechado |
| Identifier DOI: | 10.1159/000452753 |
| Address: | https://www.karger.com/Article/FullText/452753 |
| Date Issue: | 2017 |
| Appears in Collections: | FCM - Artigos e Outros Documentos |
Files in This Item:
| File | Size | Format | |
|---|---|---|---|
| 2-s2.0-85001085992.pdf | 315.21 kB | Adobe PDF | View/Open |
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