Associated Papers
Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome.
Zhao T et al.
American Journal of Medical Genetics. Part A, 2025
Notch signaling governs the expression of glypican Dally to define the stem cell niche.
Zhao S et al.
Biology Open, 2020
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Vuillaume ML et al.
Human Mutation, 2018
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Vuillaume ML et al.
Human Mutation, 2018
A patient with the Simpson-Golabi-Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface.
Shi W et al.
American Journal of Medical Genetics. Part A, 2009
Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome.
Pénisson-Besnier I et al.
American Journal of Medical Genetics. Part A, 2008
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.
Veugelers M et al.
Human Molecular Genetics, 2000
Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.
Ratbi I et al.
The Turkish Journal of Pediatrics, 0
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