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Updated: Jul 12, 2025

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这是马尔巴赫-鲁斯塔德前性综合征的第三例,由一个新的LEMD2变体引起

Zhikun Lu1, Wen Zhang1, Xiaojian Mao1

  • 1Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China.

Clinical genetics
|October 23, 2023
PubMed
概括

马巴赫-鲁斯塔德前列腺综合征是一种罕见的遗传疾病,详细介绍了中国首例病例. 重新分析整个外体序列数据,确定了LEMD2基因变异,提高了罕见疾病的诊断效率.

关键词:
对于LEMD2基因来说,这是一个很大的问题.马尔巴赫 - 鲁斯塔德前性综合征桑格尔测序是什么意思整体外基因组测序的测序

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