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CUGC for Simpson-Golabi-Behmel syndrome (SGBS).

Marie-Laure VuillaumeMarie-Pierre MoizardAlessandra BaumerEdouard CottereauFréderic BrioudeAnita RauchAnnick Toutain
Published in: European journal of human genetics : EJHG (2019)
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.
Keyphrases
  • risk assessment
  • copy number
  • genome wide
  • pregnant women
  • genome wide identification
  • circulating tumor
  • heavy metals
  • human health
  • case report
  • gene expression
  • climate change
  • dna methylation
  • genome wide analysis