Rare mutations of FGFR2 causing apert sy
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Elena G. Bochukova; Tony Roscioli; Dale J. Hedges; Indira B. Taylor; David Johns
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Article
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2009
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John Wiley and Sons
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English
⚖ 351 KB
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