Bloom Syndrome
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Bloom Syndrome

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Bloom Syndrome is an autosomal recessive disorder caused by mutations in the BLM gene.

Mutations in a BLM cause defects in helicase, impairing the ‘unzipping’ of double-stranded DNA. This affects many DNA processes, such as DNA replication and repair, and ultimately results in genomic instability.

Clinical features include short stature, photosensitivity, cafe-au-lait spots, and an increased risk for cancer.

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