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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...
Tallennettuna:
| Julkaisussa: | Neurogenetics |
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| Päätekijät: | , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2018
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| Aiheet: | |
| Linkit: | 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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