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Updated: May 8, 2026

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一个案例报告13q12.3微删除综合征由HMGB1的Haploinsufficiency引起

Ting Wen1,2,3, Brian J Shayota4, Lauren Wallace2

  • 1Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah 84108, USA.

Case reports in genetics
|December 5, 2024
PubMed
概括

一个罕见的13q12.3微删除综合征病例突出显示了HMGB1基因平分缺陷的作用. 在患有古典特征的儿科患者中,这种单基因删除为该综合征提供了新的见解.

关键词:
13q12.3 微删除综合征删除 HMGB1 删除亚托皮 亚托皮 亚托皮 亚托皮发育延迟的发展延迟.

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