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...

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Detaylı Bibliyografya
Yayımlandı:BMC Med Genet
Asıl Yazarlar: Le Thi Thanh, Huong, Do Thi Diem, Trinh, Duy, Chinh Vu, Thanh, Ha Ly Thi, Phuong, Hoa Bui Thi, Thanh, Liem Nguyen
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2018
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6090653/
https://ncbi.nlm.nih.gov/pubmed/30081849
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0658-x
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