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Updated: Feb 19, 2026

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
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EXPRESS: カブキ症候群の症例で,先天性肺呼吸道異常が認められた

Lan Yang1, Qinghui Chen1, Weifang Zhou1

  • 1Department of Infectious Diseases, Children's Hospital Affiliated with Soochow University, Suzhou 215000, Jiangsu, China.

Journal of investigative medicine : the official publication of the American Federation for Clinical Research
|February 17, 2026
PubMed
まとめ

この研究は,新しいKMT2D遺伝子変異と先天性肺呼吸道不全 (CPAM) を有するカブキ症候群 (KS) のまれな症例を詳細に説明しています. この発見は,KSの遺伝子変異と臨床プレゼンテーションの理解を広げています.

キーワード:
異常,複数の異常,複数の異常

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