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Tuberous Sclerosis Complex Caused by TSC2 Inversion and Deletions Identified Using Whole-genome Sequencing: A Case

DongJu Yoon1, Jung Ah Kwon1, Soo-Young Yoon1

  • 1Department of Laboratory Medicine, Korea University College of Medicine, Seoul, Korea.

Annals of Laboratory Medicine
|June 17, 2025
PubMed
Summary

No abstract available in PubMed .

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...