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Congenital telangiectatic erythema syndrome

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 - bloom syndrome is an autosomal recessive disorder associated with mutations in blm gene encoding protein that belongs to the family of dna helicases. It is characterized by predisposition to cancer, immunodeficiency, high sensitivity to uv and genomic instability of somatic cells. (oncogene 2001 dec 13;20(57):8276 80)

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Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on Congenital telangiectatic erythema syndrome for any updates.

 

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