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小说副本数变化和婴儿发作综合征的表型

Miaomiao Cheng1, Ling Bai2, Ying Yang1

  • 1Department of Pediatrics, Peking University First Hospital, Beijing, China.

Clinical genetics
|March 28, 2024
PubMed
概括

副本数变异 (CNVs) 是婴儿发作综合征 (IESS) 的主要原因之一. 这项研究在中国IESS患者中发现了新的CNV,其中1p36删除和15q重复是最常见的. 对于IESS诊断,建议进行CNV测试.

关键词:
副本编号变化 副本编号变化头骨脸部异常情况基因组复制数变异序列的基因组复制数变异序列婴儿发作综合征 婴儿发作综合征治疗治疗治疗治疗治疗治疗

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