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Updated: Jul 16, 2026

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胎儿的尾部回归与新的SMARCA2致病变体

Michelle Joy Wang1, Daniela A Febres-Cordero1, Tabitha Poorvu2

  • 1Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.

Prenatal diagnosis
|June 14, 2024
PubMed
概括

尼古拉伊德斯-巴拉特塞综合征 (NCBRS) 是一种罕见的遗传疾病,与SMARCA2变异有关. 这份案例报告扩展了已知的身体特征,包括尾巴回归和摇脚底部.

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相关概念视频

Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...