Associated Papers
Simpson-Golabi-Behmel Syndrome Associated With a Missense Variant at the Signal Peptide Cleavage Site of GPC3.
Moss T et al.
American Journal of Medical Genetics. Part A, 2025
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
Simpson-Golabi-Behmel syndrome.
Vaisfeld A et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2024
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
Falb RJ et al.
Journal of Medical Genetics, 2023
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
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Cottereau E et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013
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
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