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Updated: Jan 9, 2026

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
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Published on: October 20, 2019

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在一个近四倍体/马赛克多变异性倍体家族中的衰退型SMC5变体

Yongjia Yang1, Nian Li1, Cheng Liu2

  • 1Department of Medical Genetics, Hunan Children's Hospital, The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha 410007, China.

Diagnostics (Basel, Switzerland)
|December 11, 2025
PubMed
概括

马赛克多样化形症 (MVA) 与新的SMC5基因变异有关,导致一种较温和的阿特利斯综合征形式. 这扩大了对染色体不稳定性障碍及其遗传原因的理解.

关键词:
阿特利斯综合征是什么意思在SMC5中,SMC5是SMC5.染色体的不稳定性马赛克多彩的多重排列性几乎是四平流体的.

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