Clinical and laboratory findings in 8 patients with Bloom's syndrome

Abstract excerpt

UNLABELLED: Bloom's syndrome is a rare autosomal recessive disorder caused by germline mutation of the BLM gene. The objective of this study was to illustrate the clinical, biological and genetic characteristics of this syndrome through Tunisian series. We report in a retrospective study 8 case of bloom's syndrome observed during 20 years. RESULTS: Our patients were 4 males and 4 females issued from 5 families....