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Updated: Sep 9, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Published on: August 8, 2022

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中国人家族における心筋筋顔面症候群の遺伝診断と臨床特性分析

Qi Yang1,2,3, Qiang Zhang1,2,3, Sheng Yi1,2,3

  • 1Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

Frontiers in pediatrics
|September 5, 2025
PubMed
まとめ

珍しい遺伝疾患である心筋縮性顔面症候群 (CSCFS) は,新しいMAP3K7遺伝子変異と関連しています. このケースは中国人の家族における 新規の臨床的特徴を詳細に説明することで CSCFSの理解を広げています

キーワード:
MAP3K7カーディオスペンジロカルポファシアル症候群新しい合併症新しい変種エクソーム全体のシーケンシング

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