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Updated: Jun 18, 2025

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与表皮质溶解相关的先天性胆囊缩:一种新的致命变体

M Sai Pratap Reddy1, Rohit Anand2, Phalguni Padhi3

  • 1Neonatology, AIIMS Raipur, Raipur, Chattisgarh, India saipratap713@gmail.com.

BMJ case reports
|July 29, 2024
PubMed
概括

本案例研究详细介绍了一名患有甲状腺缩和表皮质溶解的男婴. 基因分析发现了ITGB4突变,突出了这些罕见疾病之间的联系.

关键词:
皮肤病学 皮肤病学儿科 儿科 儿科

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