Bloom Syndrome
- Bloom-Torre-Machacek Syndrome
- Bloom Torre Machacek Syndrome
- Syndrome, Bloom
- Syndrome, Bloom-Torre-Machacek
Definition: 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.
http://www.hon.ch/HONselect/RareDiseases/EN/C16.131.077.137.html
44http://www.hon.ch/HONselect/RareDiseases/EN/C16.131.077.137.html
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