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Updated: Feb 17, 2026

Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development
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Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development

Published on: May 17, 2024

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MAP2K2変異による心肌皮質症候群4型: 栄養失調と神経発達に関わる現象スペクトルの拡大

Aleksandra Świeca1, Małgorzata Rydzanicz2, Rafal Ploski2

  • 1Department of Medical Genetics, Medical University of Warsaw 02-106 Warsaw, Poland; Center of Excellence for Rare and Undiagnosed Disorders Medical University of Warsaw Warsaw Poland.

Clinical case reports
|February 16, 2026
PubMed
まとめ

このケーススタディは,まれなRAZOPATHYであるCFC4型心血管皮質症候群 (CFC4) と診断された女性乳児の詳細を記載しています. 発見は,早期の栄養失調,神経学的イベント,および行動上の問題を,MAP2K2変異の重要な診断特征として強調しています.

キーワード:
CFC4 CFC4 CFC4 CFC4 CFC4 CFC4 CFC44型心肌性皮質性シンドロームMAP2K2K2はMAP2K2K2と一致している.ラソパシー (RASopathy) とはニューロンの発達

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