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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Detalles Bibliográficos
Autores principales: Niu, Yan, Cao, Lirong, Zhao, Peng, Cai, Chunquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7410221/
https://www.ncbi.nlm.nih.gov/pubmed/32757993
http://dx.doi.org/10.5144/0256-4947.2020.347

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7410221/
https://www.ncbi.nlm.nih.gov/pubmed/32757993
http://dx.doi.org/10.5144/0256-4947.2020.347

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