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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Received: January 7, 1999 / Accepted: April 20, 1999
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Okamoto, N., Yagi, M., Imura, K. et al. A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome. J Hum Genet 44, 327–329 (1999). https://doi.org/10.1007/s100380050170
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DOI: https://doi.org/10.1007/s100380050170