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Updated: Jan 10, 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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由于Klinefelter综合征和CACNA1C变异的严重神经发育障碍:一个病例报告

Imen El Kamel El Lebbi1, Séverine Bacrot2, Myrtille Spentchian2

  • 1Laboratoire de Génétique Biologique, CHU Besançon, Université de Franche-Comté, Besançon, France.

Case reports in pediatrics
|November 28, 2025
PubMed
概括

克莱因费尔特综合征 (KS) 可以呈现出不同程度的严重程度. 这一案例突出了与CACNA1C基因变异相关的严重KS表现,强调了复杂病例需要先进的遗传测试的必要性.

关键词:
这就是CACNA1C.克莱因费尔特综合征是什么意思没有积症.这是一次双重打击.外基因组测序是指外基因组的测序.型是一种型.

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