Article
[Angiomyolipoma--its role in prenatal diagnosis of tuberous sclerosis].
Casopis lekaru ceskych - 1 Jan 2004
Vrtĕl R, Vodicka R, Santavá A, Santavý J, Krejciríková E
Abstract excerpt
Tuberous sclerosis (TSC) is a frequent hereditary autosomal-dominant disease characterised by hamartomas developing in many organs. The disorder is caused by mutations affecting either of the tumor-suppressor genes, TSC1 and TSC2. Tumorogenesis is triggered by the loss of second functional gene copy, mostly accompanied by loss of heterozygosity (LOH) of flanking polymorphic markers. Search for causing mutations...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
