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Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation

✍ Scribed by Punnett, Hope H.

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 181 KB
Volume: 50
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320500424

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Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome caused by deletions in glypican 3 (GPC3). SGBS is characterized by pre- and postnatal overgrowth, a characteristic facial appearance, and a spectrum of congenital malformations which overlaps that of other overgrowth syndromes.