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CUGC for Simpson-Golabi-Behmel syndrome (SGBS)
Marie-Laure Vuillaume1,2, Marie-Pierre Moizard1,2, Alessandra Baumer3
1Service de Génétique, Centre Hospitalier Universitaire, Tours, France.
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.
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