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Updated: Jul 13, 2025

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aCGH分析揭示了与先天性腹膜 Hernia Plus (CDH+) 相关的新突变

Yannick Schreiner1, Teresa Stoll1, Oliver Nowak2

  • 1Department of Neonatology, University Children's Hospital Mannheim, University of Heidelberg, 69117 Mannheim, Germany.

Journal of clinical medicine
|October 14, 2023
PubMed
概括

对具有其他形 (CDH+) 的先天性隔膜的遗传分析发现了新的突变. 基于数组的比较基因组杂交 (aCGH) 揭示了删除和重复,包括两个候选基因,PTPRD和GATA4.

关键词:
基于数组的基因组杂交.生产性腹膜,再加上先天性腹膜.副本数量的变化 副本数量的变化单个核酸的变化变化.

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