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Bloom's syndrome

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Bloom's syndrome

Very rare form of human dwarfism caused by a mutation on chromosome 15. Babies with Bloom's syndrome are unusually small, with a birth weight of about 1 kg/2.2 lb, but are perfectly proportioned. They rarely grow taller than about 1.5 m/5 ft, and die in early adulthood due to a susceptibility to cancer. It is named after US dermatologist David Bloom who first described symptoms 1954.



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report that Bloom's syndrome arises from mutations in a gene, called blm, that is essential to the process by which chromosomes copy themselves.
Gene for rare disease gives cancer clues by Seachrist, Lisa / Science News
The scientists searched for a similar enzyme in cells from Bloom's syndrome patients.
Bloom's enzyme identified by Science News
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