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Updated: Jun 4, 2025

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在先天性心脏缺陷和外皮发育不良 (CHDED) 中,大脑化

Daisuke Watanabe1, Yohei Hasebe2, Hideaki Yagasaki2

  • 1Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan; Department of Pediatrics, Yamanashi University School of Medicine, Yamanashi, Japan.

European journal of medical genetics
|December 31, 2024
PubMed
概括

遗传性心脏缺陷和外皮发育不良 (CHDED) 与PRKD1基因变异有关. 这项研究报告了一名患有CHDED和大脑化的新患者,这表明PRKD1

关键词:
化是一种化过程.遗传性心脏缺陷和外皮发育不良.这就是PRKD1的原因.

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