Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

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 >98% of cases. He...

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Bibliographic Details
Main Authors:	Bochukova, E, Roscioli, T, Hedges, D, Taylor, I, Johnson, D, David, D, Deininger, P, Wilkie, A
Format:	Journal article
Language:	English
Published:	2009

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