Cardiofaciocutaneus syndrome: literature review and case report
The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome pre...
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| Main Authors: | V. V. Umnov, N. V. Nikitina, A. M. Khodorovskaya, O. V. Barlova |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2019-01-01
|
| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/304 |
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