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- W3021729293 abstract "Bloom’s syndrome (BSyn) is a rare recessively inherited form of human dwarfness distinguished clinically from other forms by four features: roughly normal proportions of the trunk and limbs, but a slightly disproportionally small cranium, a striking paucity of subcutaneous fat tissue early in life, and a sun-sensitive erythema of the face. Three serious medical disorders arise unusually frequently and at unusually early ages, namely chronic obstructive lung disease, diabetes, and cancer. BSyn’s cellular phenotype is also strikingly abnormal, making it the prototype of the so-called chromosome-breakage syndromes: hyperrecombinability and an associated hypermutability. The gene mutated, BLM, normally encodes the protein BLM, an evolutionarily conserved DNA helicase, one which plays a major biological role in maintenance of the stability of the genetic material." @default.
- W3021729293 created "2020-05-13" @default.
- W3021729293 creator A5039962673 @default.
- W3021729293 date "2013-01-01" @default.
- W3021729293 modified "2023-09-26" @default.
- W3021729293 title "Bloom’s Syndrome" @default.
- W3021729293 cites W1999660230 @default.
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- W3021729293 doi "https://doi.org/10.1016/b978-0-12-374984-0.00160-1" @default.
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