bloom syndrome meaning

[Medicine]
An autosomal recessive disorder characterized by telangiectatic erythema of the face,photosensitivity,dwarfism,and other abnormalities.

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1. Victims of Bloom syndrome most often die of cancer.
2. Earlier studies had shown that mutation of both copies of the BLM gene causes a disorder called Bloom syndrome.
3. On February 19, 2015, the FDA announced that it had approved a 23andMe test for Bloom syndrome.
4. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'� ! 5'helicase activity.
5. BS is caused by mutations in the BLM gene, which encodes for the Bloom syndrome protein, a RecQ helicase.