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Updated: Jul 14, 2025

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案例报告:解密与马方综合征相关的染色体间插入:光学基因组映射如何强调复制中性变异的病态负担

Maria Clara Bonaglia1, Eliana Salvo1, Manuela Sironi2

  • 1Cytogenetics Laboratory, Scientific Institute, IRCCS E. Medea, Lecco, Italy.

Frontiers in genetics
|October 9, 2023
PubMed
概括

光学基因组映射 (OGM) 在一个患有马凡综合征和智力障碍的患者中发现了复杂的染色体重组. 这项分析揭示了破坏ROBO2的删除和包括FBN1在内的插入,建立了基因型-表型相关性.

关键词:
FBN1 FBN1 的意思是什么?这就是ROBO2的机器人.染色体三症是一种染色体三症复杂的染色体重排是复杂的染色体重排.智力障碍 智力障碍是一种智力障碍.

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