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Updated: Jun 3, 2025

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重新审视新生儿查计划:关于雷特综合征挑战的专家意见

Jatinder Singh1,2,3, Paramala Santosh1,2,3

  • 1Department of Child and Adolescent Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.

Genes
|January 8, 2025
PubMed
概括

新生儿查 (NBS) 中的基因组测序可能会彻底改变罕见疾病的检测. 虽然雷特综合征 (RTT) 被排除在世代研究之外,但未来的研究和宣传可能会使其纳入NBS计划.

关键词:
一代研究一代研究研究雷特综合征是什么意思 雷特综合征是什么意思数字化表型化是指数字化表型化.新生儿查 新生儿查症状前测试 症状前测试

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