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Nature Genetics 9, 173–176 (1 February 1995) | doi:10.1038/ng0295-173

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

Paul Rutland , Louise J. Pulleyn , William Reardon , Michael Baraitser , Richard Hayward , Barry Jones , Sue Malcolm , Robin M. Winter , Michael Oldridge , Sarah F. Slaney , Michael D. Poole & Andrew O.M. Wilkie