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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients still remains unknown. Recently, next generation se...
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| Publicado en: | Sci Rep |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Nature Publishing Group UK
2017
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5613000/ https://ncbi.nlm.nih.gov/pubmed/28947817 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-11620-3 |
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