|
|
Bloom-Syndrom
|
Beschreibung:
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.
Synonym(s):
Bloom-Torre-Machacek-Syndrom /
|
(NLM)®
(DIMDI - Deutsche Fassung)
|
|
|
|
|
|