 Bloom Syndrome
"Bloom Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
| Descriptor ID |
D001816
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| MeSH Number(s) |
C16.131.077.137 C18.452.284.100
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| Concept/Terms |
Bloom Syndrome- Bloom Syndrome
- Syndrome, Bloom
- Bloom-Torre-Machacek Syndrome
- Bloom Torre Machacek Syndrome
- Syndrome, Bloom-Torre-Machacek
- Congenital Telangiectatic Erythema
- Bloom's Syndrome
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Below are MeSH descriptors whose meaning is more general than "Bloom Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Bloom Syndrome".
This graph shows the total number of publications written about "Bloom Syndrome" by people in this website by year, and whether "Bloom Syndrome" was a major or minor topic of these publications.
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Below are the most recent publications written about "Bloom Syndrome" by people in Profiles.
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Rao VA, Fan AM, Meng L, Doe CF, North PS, Hickson ID, Pommier Y. Phosphorylation of BLM, dissociation from topoisomerase IIIalpha, and colocalization with gamma-H2AX after topoisomerase I-induced replication damage. Mol Cell Biol. 2005 Oct; 25(20):8925-37.
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Weksberg R, Smith C, Anson-Cartwright L, Maloney K. Bloom syndrome: a single complementation group defines patients of diverse ethnic origin. Am J Hum Genet. 1988 Jun; 42(6):816-24.
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