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Updated: Jul 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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在诊断上未解决的埃勒斯-丹洛斯综合征的遗传复杂性

Anthony M Vandersteen1,2,3, Ruwan A Weerakkody3,4,5, David A Parry3

  • 1Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada tim.aitman@ed.ac.uk anthony.vandersteen@dal.ca.

Journal of medical genetics
|October 9, 2023
PubMed
概括

整体外基因组测序在埃勒斯-丹洛斯综合征 (EDS) 和相关疾病中发现了致病变体,突出显示了它对复杂病例的临床实用性. 进一步的分析表明,新型候选基因用于高移动性EDS (hEDS) 和遗传性胸前大动脉疾病 (HTAD).

关键词:
基因检测 基因检测 基因检测人类遗传学 人类遗传学肌肉骨疾病 肌肉骨疾病类风湿病学 类风湿病学

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