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.

SUBMITTER: Vuillaume ML 

PROVIDER: S-EPMC6460641 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature