CUGC for Simpson-Golabi-Behmel syndrome (SGBS) View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-01-25

AUTHORS

Marie-Laure Vuillaume, Marie-Pierre Moizard, Alessandra Baumer, Edouard Cottereau, Frédéric Brioude, Anita Rauch, Annick Toutain

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.

PAGES

663-668

References to SciGraph publications

  • 2014-09-20. Simpson-Golabi-Behmel syndrome types I and II in ORPHANET JOURNAL OF RARE DISEASES
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41431-019-0339-z

    DOI

    http://dx.doi.org/10.1038/s41431-019-0339-z

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1111662137

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30683921


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