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Monogenic Disorders that Mimic the Phenotype of Rett Syndrome
BACKGROUND. Rett syndrome (RTT) is caused by mutations in methyl-CpG binding protein 2 (MECP2), but defects in a handful of other genes (e.g., CDKL5, FOXG1, MEF2C) can lead to presentations that resemble, but do not completely mirror, classical RTT. In this study, we attempted to identify other mono...
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| Udgivet i: | Neurogenetics |
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| Main Authors: | , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2018
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6156085/ https://ncbi.nlm.nih.gov/pubmed/29322350 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-017-0535-3 |
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