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Updated: Jan 17, 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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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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CACP综合征和PRG4突变

Juliette Trochain1, Cecilia Moscovici2, Marie Le Nezet3

  • 1Rhumatologie, Centre hospitalier du Mans, Le Mans, France.

BMJ case reports
|September 22, 2025
PubMed
概括

本案例研究详细介绍了一个晚期诊断的camptodactyly-arthropathy-coxa vara-pericarditis综合征在一个有收缩性心膜炎的成年人. 该研究还回顾了关于这种罕见遗传疾病的当前文献.

关键词:
遗传学 是一个遗传学.骨关节炎是一种骨关节炎.周心脏疾病是周心脏疾病.

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