Author:
Bellus Gary A.,Gaudenz Karin,Zackai Elaine H.,Clarke Lome A.,Szabo Jinny,Francomano Clair A.,Muenke Maximilian
Publisher
Springer Science and Business Media LLC
Reference27 articles.
1. McKusick, V.A. (1994) Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders. 11th edn. 759–761 (Johns Hopkins University Press, Baltimore, 1994).
2. Cohen, M.M. Jr., Pfeiffer syndrome update, clinical subtypes and guidelines for differential diagnosis. Am J. Med. Genet. 45, 300–307 (1993).
3. Robin, N.H. et al. Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity. Hum Mol. Genet. 3, 2153–2158 (1994).
4. Schell, U. et al. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum. Mol. Genet. 4, 323–328 (1995).
5. Muenke, M. et al. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nature Genet. 8, 269–274 (1994).
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