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Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis
BACKGROUND: To date, at least 746 genes have been identified to cause intellectual disability (ID). Among them, mutations in the Methyl CpG binding protein 2 (MECP2) gene are the leading cause of Rett syndrome and associated ID. METHODS: Considering the large number of ID-associated genes, we applie...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216709/ https://www.ncbi.nlm.nih.gov/pubmed/32393352 http://dx.doi.org/10.1186/s12881-020-01042-w |