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Updated: Jul 16, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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Published on: February 21, 2015

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一个患有克莱夫斯特拉综合征的患者的多个副本数量变化

Thomas Nohama Lee1, Henrique El Laden Rechetello1, João Batista De Arêa Lima Júnior1

  • 1Faculdade Evangélica Mackenzie do Paraná, Curitiba, PR, Brazil.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
|September 20, 2023
PubMed
概括

这项研究详细介绍了一个罕见的Klebs-tra综合征 (KS) 病例,该病例发生在一个患有多种额外染色体变异的小男孩身上. 这些遗传变异复杂化了KS的临床表现和诊断.

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