| Literature DB >> 10496077 |
N Okamoto1, M Yagi, K Imura, Y Wada.
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.Entities:
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Year: 1999 PMID： 10496077 DOI： 10.1007/s100380050170
Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172