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Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome
BACKGROUND: Rett syndrome (RTT) is a severe neurodevelopmental disorder in children characterized by a normal neurodevelopmental process in the first 6–18 months followed by a period of motor and vocal deterioration with stereotypic hand movements. Incidence of RTT is mostly due to de novo mutation...
Autores principales: | Le Thi Thanh, Huong, Do Thi Diem, Trinh, Duy, Chinh Vu, Thanh, Ha Ly Thi, Phuong, Hoa Bui Thi, Thanh, Liem Nguyen |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090653/ https://www.ncbi.nlm.nih.gov/pubmed/30081849 http://dx.doi.org/10.1186/s12881-018-0658-x |
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