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Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage
Rett syndrome (RTT) is a neurodevelopmental disorder caused predominantly by loss-of-function mutations in the gene Methyl-CpG-binding protein 2 (MECP2), which encodes the MeCP2 protein. RTT is a MECP2-related disorder, along with MECP2 duplication syndrome (MDS), caused by gain-of-function duplicat...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Dove
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9719276/ https://www.ncbi.nlm.nih.gov/pubmed/36471747 http://dx.doi.org/10.2147/NDT.S371483 |