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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

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

Vuillaume Marie-Laure ML Moizard Marie-Pierre MP Baumer Alessandra A Cottereau Edouard E Brioude Frédéric F Rauch Anita A Toutain Annick A

European journal of human genetics : EJHG 20190125 4

<h4>Name of the disease (synonyms)</h4>Simpson-Golabi-Behmel syndrome (SGBS). OMIM# OF THE DISEASE: 312870.<h4>Name of the analysed genes or dna/chromosome segments</h4>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. ...[more]

PMID: 30683921

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