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Syndrome de Bloom
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Définition:
An autosomal recessive disorder characterized by telangiectatic of the face, photosensitivity, and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like helicase.
Synonyme(s):
Syndrome de Bloom-Torre-Machacek /
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(NLM)®
de l'INSERM (version française)
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