对11例患有巴德特-比德尔综合征的胎儿病例的表型和基因型分析

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Qiu-Xia Yu1, Na Liu2, Li Zhen1

  • 1Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.

Prenatal diagnosis
|June 6, 2024
PubMed
概括

产前超声波可以在第二个三个月内识别胎儿巴德特-比德尔综合征 (BBS),而过度大的脏和后轴多肢是关键指标. 基因检测证实了诊断,有助于早期检测.

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