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

✍ Scribed by N. Okamoto; Makoto Yagi; Kenji Imura; Yoshinao Wada

Book ID
106252547
Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
610 KB
Volume
44
Category
Article
ISSN
1435-232X

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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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## Abstract The Simpson–Golabi–Behmel syndrome (SGBS) is an overgrowth condition comprising “coarseness” of facial traits, supernumerary nipples, congenital heart defects, polydactyly and fingernail hypoplasia, and an increased risk of neonatal death and later neoplasia. Psychomotor development is