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Updated: Jul 27, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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早期发病的马方综合征与一种新的误解突变:一个病例报告

Kana Soma1, Yosuke Kitagawa1, Tsutomu Toki1

  • 1Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.

Journal of cardiology cases
|June 7, 2023
PubMed
概括

早期发病的马方综合征 (eoMFS) 是一种由FBN1基因突变引起的新生儿严重疾病. 关键新生儿区域的基因测试可以帮助产前诊断和管理.

关键词:
大动脉根扩张尾虫尾虫是什么意思 尾虫是什么意思早期出现的马方综合征在FBN1基因中,错误的意义的变体.这是下一代测序.

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