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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Bibliographic Details
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:Nervno-Myšečnye Bolezni
Subjects:
Online Access:https://nmb.abvpress.ru/jour/article/view/304