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Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome
BACKGROUND: X-linked methyl-CpG-binding protein 2 (MECP2) duplication syndrome is prevalent in approximately 1% of X-linked intellectual disabilities. Accumulating evidence has suggested that MECP2 is the causative gene of MECP2 duplication syndrome. We report a case of a 17-year-old boy with a 1.2 ...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9987063/ https://www.ncbi.nlm.nih.gov/pubmed/36879246 http://dx.doi.org/10.1186/s12920-023-01465-3 |