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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...

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Detalles Bibliográficos
Autores principales: Xing, Xu-Hang, Takam, Russel, Bao, Xiu-Ying, Ba-alwi, Nour Abdallah, Ji, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2023
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