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CUGC for Simpson-Golabi-Behmel syndrome (SGBS).
Vuillaume, Marie-Laure; Moizard, Marie-Pierre; Baumer, Alessandra; Cottereau, Edouard; Brioude, Frédéric; Rauch, Anita; Toutain, Annick.
Affiliation
  • Vuillaume ML; Service de Génétique, Centre Hospitalier Universitaire, Tours, France.
  • Moizard MP; UMR 1253, iBrain, Université de Tours, INSERM, Tours, France.
  • Baumer A; Service de Génétique, Centre Hospitalier Universitaire, Tours, France.
  • Cottereau E; UMR 1253, iBrain, Université de Tours, INSERM, Tours, France.
  • Brioude F; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Rauch A; Service de Génétique, Centre Hospitalier Universitaire, Tours, France.
  • Toutain A; Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Trousseau, Paris, France.
Eur J Hum Genet ; 27(4): 663-668, 2019 Apr.
Article in En | MEDLINE | ID: mdl-30683921
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.
Subject(s)
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arrhythmias, Cardiac / Abnormalities, Multiple / Genetic Predisposition to Disease / Genetic Diseases, X-Linked / Glypicans / Gigantism / Heart Defects, Congenital / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arrhythmias, Cardiac / Abnormalities, Multiple / Genetic Predisposition to Disease / Genetic Diseases, X-Linked / Glypicans / Gigantism / Heart Defects, Congenital / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: