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

Elena G. Bochukova, Tony Roscioli, Dale J. Hedges, Indira B. Taylor, David Johnson, David J. David, Prescott L. Deininger, Andrew O.M. Wilkie

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Biochemistry, Genetics and Molecular Biology