Bloom syndrome (often abbreviated as BS in literature) is a rare autosomal recessive genetic disorder characterized by short stature, predisposition to the development of cancer, and genomic instability. BS is caused by mutations in the BLM gene which is a member of the RecQ DNA helicase family. Mutations in other members of this family, namely WRN and RECQL4, are associated with the clinical entities Werner syndrome and Rothmund–Thomson syndrome, respectively. More broadly, Bloom syndrome is a member ...
Les mer på WikipediaSkriv inn et symptom eller en sykdom og les om urter som kan hjelpe, skriv en urt og se sykdommer og symptomer den brukes mot.
* All informasjon er basert på publisert vitenskapelig forskning