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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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
King Faisal Specialist Hospital and Research Centre
2020-07-01
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| Σειρά: | Annals of Saudi Medicine |
| Διαθέσιμο Online: | https://www.annsaudimed.net/doi/full/10.5144/0256-4947.2020.347 |
| Ετικέτες: |
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