Bloom syndrome
#
Find similar titles
- (rev. 2)
- Hyungyong Kim
Bloom syndrome (often abbreviated as BS in literature), also known as Bloom–Torre–Machacek syndrome, is a rare autosomal recessive disorder characterized by short stature, predisposition to the development of cancer and genomic instability. BS is caused by mutations in the BLM gene leading to mutated DNA helicase protein formation. (https://en.wikipedia.org/wiki/Bloom_syndrome)