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Letter

Nature Genetics 14, 174–176 (1 October 1996) | doi:10.1038/ng1096-174

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

Gary A. Bellus , Karin Gaudenz , Elaine H. Zackai , Lome A. Clarke , Jinny Szabo , Clair A. Francomano & Maximilian Muenke

Pfeiffer syndrome (PS; McKusick MIM 101600) is an autosomal dominant craniosynostosis syndrome with characteristic craniofacial anomalies and broad thumbs and big toes1,2. We have previously demonstrated genetic heterogeneity in PS and mapped a gene to chromosome 8 (ref.