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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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| Publicat a: | Ann Saudi Med |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
King Faisal Specialist Hospital and Research Centre
2020
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| Matèries: | |
| Accés en línia: | 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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