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Updated: Mar 2, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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与RASA1突变相关的渐进性非免疫水胎儿:产前成像和基因组见解

Kakoly Borthakur1, Nishigandha Mali2, Ishika Borthakur3

  • 1Women's Imaging, Aarti Diagnostic Centre, Navi-Mumbai, Maharashtra, India kakolyb@yahoo.co.in.

BMJ case reports
|February 28, 2026
PubMed
概括

非免疫水胎儿 (NIHF) 可能源于罕见的遗传疾病,如RASA1突变. 这个案例突出了RASA1相关的毛细血管形-动脉静脉形1型 (CM-AVM1) 作为NIHF的原因.

关键词:
遗传学 是一个遗传学.产科和妇产科 产科和妇产科产前诊断 在产前诊断放射学 放射学是一门学科.超声波学 超声波学 超声波学

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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...
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