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Simpson-Golabi-Behmel syndrome: Follow-up of the michigan family

✍ Scribed by Opitz, John M. ;Herrmann, Jürgen ;Gilbert, Enid F. ;Matalon, Reuben

Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
486 KB
Volume
30
Category
Article
ISSN
0148-7299

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The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth/multiple congenital anomalies/dysplasia syndrome caused by a mutant X-linked gene. The spectrum of its clinical manifestations is broad, varying from very mild forms in carrier females to infantile lethal forms in affected males. A typically

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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.