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
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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 UAMS Profiles by year, and whether "Bloom Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
Year | Major Topic | Minor Topic | Total |
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2023 | 1 | 0 | 1 | 2006 | 0 | 1 | 1 | 2002 | 0 | 1 | 1 |
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Below are the most recent publications written about "Bloom Syndrome" by people in Profiles over the past ten years.
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Wayhelova M, Vallova V, Broz P, Mikulasova A, Machackova D, Filkova HD, Smetana J, Takacsova A, Gaillyova R, Kuglik P. A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio-based exome sequencing: A case report. Mol Med Rep. 2023 May; 27(5).
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