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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

Authors

  • Wen Shi,

    1. Division of Molecular and Cellular Biology, Sunnybrook Health Sciences Centre, Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada
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  • Jorge Filmus

    Corresponding author
    1. Division of Molecular and Cellular Biology, Sunnybrook Health Sciences Centre, Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada
    • Division of Molecular and Cellular Biology, Sunnybrook Health Sciences Centre, 2075 Bayview Avenue, Room S-220, Toronto, Ontario, Canada M4N 3M5.
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  • How to cite this article: Shi W, Filmus J. 2009. 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. Am J Med Genet Part A 149A:552–554.

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