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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 (2019). CUGC for Simpson-Golabi-Behmel syndrome (SGBS). European Journal of Human Genetics, 27(4):663-668.

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.

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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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Language:English
Date:April 2019
Deposited On:06 Feb 2020 10:30
Last Modified:29 Jul 2020 12:32
Publisher:Nature Publishing Group
ISSN:1018-4813
OA Status:Closed
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1038/s41431-019-0339-z
PubMed ID:30683921

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