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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
King Faisal Specialist Hospital and Research Centre
2020
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| Materias: | |
| 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 |