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The first reported case of Menkes disease caused by an Alu insertion mutation

โœ Scribed by YanHong Gu; Hiroko Kodama; Shigero Watanabe; Nobuyuki Kikuchi; Ineo Ishitsuka; Hiroshi Ozawa; Chie Fujisawa; Katsuaki Shiga

Book ID
113498395
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
506 KB
Volume
29
Category
Article
ISSN
0387-7604

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Apert syndrome (AS) is a severe disorder, characterized by craniosynostosis and complex syndactyly of the hands and feet. Two heterozygous gain-of-function substitutions (Ser252Trp and Pro253Arg) in exon IIIa of fibroblast growth factor receptor 2 (FGFR2) are responsible for 498% of cases. Here we d