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Germinal mosaicism in Simpson-Golabi-Behmel syndrome

✍ Scribed by V Romanelli; I Arroyo; JI Rodriguez; L Magano; P Arias; I Incera; R Gracia-Bouthelier; P Lapunzina


Book ID
110888466
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
159 KB
Volume
72
Category
Article
ISSN
0009-9163

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We describe an infant with Simpson-Golabi-Behmel syndrome (SGBS) with a new manifestation, choledochal cyst. He is a new member of our previously reported family with the syndrome [Chen et al., 1993;Golabi and Rosen, 1984]. The phenotype of SGBS is further elaborated, and the pathogenesis of choledo

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