Publication: CUGC for Simpson-Golabi-Behmel syndrome (SGBS)
CUGC for Simpson-Golabi-Behmel syndrome (SGBS)
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Date
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Citations
Vuillaume, M.-L., Moizard, M.-P., Baumer, A., Cottereau, E., Brioude, F., Rauch, A., & Toutain, A. (2019). CUGC for Simpson-Golabi-Behmel syndrome (SGBS). European Journal of Human Genetics, 27(4), 663–668. https://doi.org/10.1038/s41431-019-0339-z
Abstract
Abstract
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.
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Creators (Authors)
- Vuillaume, Marie-Laure
- Moizard, Marie-Pierre
- Baumer, Alessandra
- Cottereau, Edouard
- Brioude, Frédéric
- Rauch, Anita
- Toutain, Annick
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Publisher DOI
Citations
Vuillaume, M.-L., Moizard, M.-P., Baumer, A., Cottereau, E., Brioude, F., Rauch, A., & Toutain, A. (2019). CUGC for Simpson-Golabi-Behmel syndrome (SGBS). European Journal of Human Genetics, 27(4), 663–668. https://doi.org/10.1038/s41431-019-0339-z
