Human genes for bloom syndrome
Bloom syndrome [DOID:2717]
Bloom's syndrome (BLM), also known as Bloom–Torre–Machacek syndrome,:575 is a rare autosomal recessive chromosomal disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes. The condition was discovered and first described by dermatologist Dr. David Bloom in 1954.
Synonyms: bloom syndrome, DOID:2717, bloom disease, bloom disorder, Bloom-Torre-Machacek syndrome ...