CUGC for Simpson-Golabi-Behmel syndrome (SGBS)

Abstract

Name of the disease (Synonyms):: Simpson-Golabi-Behmel syndrome (SGBS). OMIM# of the disease:: 312870. Name of the analysed genes or DNA/chromosome segments:: GPC3. OMIM# of the gene(s):: 300037. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the GPC3 gene(s) in diagnostic, predictive and prenatal settings and for risk assessment in relatives.