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Mesh term Bloom Syndrome

Browse to parent terms:
Abnormalities, Multiple
DNA Repair-Deficiency Disorders

Description

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.



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