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Updated: Jun 14, 2025

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

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在CEP83基因中,双边佩里西尔维亚多微症,智力障碍和神与复合异质合生病原体变异相关

Elena Parrini1, Simona Balestrini1,2, Domenico Rutigliano1

  • 1Neuroscience and Medical Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy.

American journal of medical genetics. Part A
|September 2, 2024
PubMed
概括

中心体蛋白83 (CEP83) 基因中的致病变体与新的表型有关,包括多微症和智力障碍,扩大已知的CEP83相关疾病谱.

关键词:
CEP83 CEP83 CEP83 CEP83 CEP83 CEP83 CEP83 CEP83 CEP83外基因组测序是指外基因组的测序.这是一种nephronophthisis.病原性变异是一种病原性变异.聚微生态的多元化.

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