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Bloom syndrome

Bloom syndrome, also known as Bloom–Torre–Machacek syndrome, is a rare autosomal recessive disorder characterized by short stature and predisposition to the development of cancer. BS is caused by mutations in the BLM gene leading to mutated DNA helicase protein formation. Cells from a person with Bloom syndrome exhibit a striking genomic instability that includes excessive homologous recombination and sister chromatid exchanges. The condition was discovered and firs...

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