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Updated: Jun 13, 2025

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一个家族病例的1q31.2q32.2删除没有表型呈现

Rebecca Littlefield1, Jennifer Weiss2, Anna Zakas1,3

  • 1Oncology Genetics, University of Wisconsin Carbone Cancer Center, UW Health, Madison, Wisconsin, USA.

Cytogenetic and genome research
|February 26, 2025
PubMed
概括

一个无症状的家庭被发现有1q31删除,这是一种罕见的遗传发现,通常与发育问题有关. 这一案例凸显了对1q31删除的更多研究的需要,以了解它们的各种临床表现.

关键词:
1q删除删除的方法没有症状的无症状.美国疾病预防控制中心73 CDC73遗传性 遗传性 遗传性

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