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A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome (1999)

Okamoto, N. ; Yagi, Makoto ; Imura, Kenji ; [et al.]

Springer

Journal of human genetics 44 (1999), S. 327-329

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ISSN: 1435-232X

Keywords: Key words Simpson-Golabi-Behmel syndrome ; Overgrowth syndrome ; Glypican-3 ; IGF-2 ; Proteoglycan

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: 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.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/s100380050170

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