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  • Title: A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome.
    Author: Okamoto N, Yagi M, Imura K, Wada Y.
    Journal: J Hum Genet; 1999; 44(5):327-9. PubMed ID: 10496077.
    Abstract:
    Simpson-Golabi-Behmel syndrome (SGBS) is one of the overgrowth syndromes. Microdeletions of the glypican-3 (GPC3) gene were described by Pilia et al. (1996). Glypican-3 encodes a putative extracellular proteoglycan which is expressed in embryonic mesodermal tissues and plays an important role in embryonal growth. We report a Japanese patient with SGBS who had a single base deletion in the exon 7 of the GPC3 gene. This is the first report of a single base deletion of the GPC3 gene.
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