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RAS-патии: синдром Нунан и другие родственные заболевания. Обзор литературы

https://doi.org/10.14341/probl201460645-52

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Аннотация

Рассмотрена сформированная в 2010 г. группа заболеваний - Ras-патии. Одним из представителей группы является синдром Нунан, известный в педиатрической практике в первую очередь как синдром, сопровождающийся правосторонними кардиологическими нарушениями и низкорослостью. Известны множественные молекулярно-генетические механизмы, обусловливающие синдром Нунан (гены PTPN11, SOS1 и др.). Группа Ras-патий включает: синдром Нунан, нейрофиброматоз 1-го типа, синдром Нунан с множественными лентиго (LEOPARD), кранио-фацио-кожный синдром, синдром капиллярной и артериовенозной мальформации, синдром Костелло, синдром Легиуса. Все эти синдромы объединяют молекулярные нарушения в каскаде Ras/MAPK-пути, что приводит к характерной клинической картине, включая множественные стигмы дисэмбриогенеза, низкорослость, кардиальные нарушения и склонность к новообразованиям.

Об авторе

М В Фаассен
ФГБУ «Эндокринологический научный центр» Минздрава России, Москва
Россия


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Для цитирования:


Фаассен М.В. RAS-патии: синдром Нунан и другие родственные заболевания. Обзор литературы. Проблемы Эндокринологии. 2014;60(6):45-52. https://doi.org/10.14341/probl201460645-52

For citation:


Faassen M.V. RAS-pathies: Noonan syndrome and other related diseases. The literature review. Problems of Endocrinology. 2014;60(6):45-52. (In Russ.) https://doi.org/10.14341/probl201460645-52

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