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Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient: A case report and review of the literature
BACKGROUND: Chromosomal Xq28 region duplication encompassing methyl-CpG-binding protein 2 (MECP2) results in an identifiable phenotype and global developmental delay known as MECP2 duplication syndrome (MDS). This syndrome has a wide range of clinical manifestations, including abnormalities in appea...
Autores principales: | Xing, Xu-Hang, Takam, Russel, Bao, Xiu-Ying, Ba-alwi, Nour Abdallah, Ji, Hong |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10600989/ https://www.ncbi.nlm.nih.gov/pubmed/37900250 http://dx.doi.org/10.12998/wjcc.v11.i27.6505 |
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