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A case of congenital Rett variant in a Chinese patient caused by a FOXG1 mutation

Rett syndrome (RTT) is a severe progressive neurodevelopmental disease characterized by psychomotor regression. The FOXG1 gene is one of the pathogenic genes associated with the congenital Rett variant, which is less studied. Only a few Chinese patients with FOXG1 mutation have been reported. In thi...

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Detalhes bibliográficos
Publicado no:Ann Saudi Med
Main Authors: Niu, Yan, Cao, Lirong, Zhao, Peng, Cai, Chunquan
Formato: Artigo
Idioma:Inglês
Publicado em: King Faisal Specialist Hospital and Research Centre 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7410221/
https://ncbi.nlm.nih.gov/pubmed/32757993
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5144/0256-4947.2020.347
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