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Year | Number of Results |
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2000 | 1 |
2011 | 1 |
2018 | 1 |
2024 | 0 |
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Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.
Hum Mol Genet. 2000 May 22;9(9):1321-8. doi: 10.1093/hmg/9.9.1321.
Hum Mol Genet. 2000.
PMID: 10814714
A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review.
Weichert J, Schröer A, Amari F, Siebert R, Caliebe A, Nagel I, Gillessen-Kaesbach G, Mohrmann I, Hellenbroich Y.
Weichert J, et al.
Eur J Med Genet. 2011 May-Jun;54(3):343-7. doi: 10.1016/j.ejmg.2011.02.009. Epub 2011 Mar 21.
Eur J Med Genet. 2011.
PMID: 21362501
Review.
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Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Vuillaume ML, Moizard MP, Rossignol S, Cottereau E, Vonwill S, Alessandri JL, Busa T, Colin E, Gérard M, Giuliano F, Lambert L, Lefevre M, Kotecha U, Nampoothiri S, Netchine I, Raynaud M, Brioude F, Toutain A.
Vuillaume ML, et al.
Hum Mutat. 2018 Dec;39(12):2110-2112. doi: 10.1002/humu.23612. Epub 2018 Sep 17.
Hum Mutat. 2018.
PMID: 30447178
No abstract available.
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