CUGC for Simpson-Golabi-Behmel syndrome (SGBS)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-019-0339-z.pdf
Reference8 articles.
1. Golabi M, Leung A, Lopez C. Simpson-Golabi-Behmel syndrome type 1. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, et al., editors. GeneReviews(®)[Internet]. Seattle (WA): University of Washington; 2011.
2. Cottereau E, Mortemousque I, Moizard M-P, Bürglen L, Lacombe D, Gilbert-Dussardier B, et al. Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet. 2013;163C:92–105.
3. Schirwani S, Novelli A, Digilio MC, Bourn D, Wilson V, Roberts C, et al. Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1. Eur J Med Genet. 2018. (In press).
4. Waterson J, Stockley TL, Segal S, Golabi M. Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. Am J Med Genet A. 2010;152A:3179–81.
5. Cottereau E, Moizard M-P, David A, Raynaud M, Marmin N, Toutain A. Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome. Am J Med Genet A. 2014;164A:282–4.
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