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与HIST1H1E相关的拉曼综合征的呼吸道参与:严重混合性呼吸暂停病例

Nada Barakat1, Marjolaine Champagne2, Mathieu Bergeron3

  • 1Faculty of Medicine, University of Montreal, Montreal, Canada.

American journal of medical genetics. Part A
|December 8, 2025
PubMed
概括

拉赫曼综合征的呼吸系统问题可能被诊断不足. 这项研究突出了严重睡眠呼吸暂停的马赛克HIST1H1E病例,表明需要对受影响个体进行彻底的呼吸道评估.

关键词:
他的历史1H1E.拉赫曼综合征是什么 拉赫曼综合征头骨脸部异常情况低血压症 (hypotonia) 是一种疾病.宏观头脑症是什么意思神经发育障碍是一种神经发育障碍.睡眠障碍 呼吸障碍 睡眠障碍

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