Concepedia

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

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

Nature Genetics · 1995 · 457 citations · 18 references

DOI

Concepts

References

18

Mutations of Chromosome 5q21 Genes in FAP and Colorectal Cancer Patients

Isamu Nishisho, Yusuke Nakamura, Yasuo Miyoshi et al. · Science · 1991 · 1.9K citations

, , +17

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

Andrew O.M. Wilkie, Sarah F. Slaney, Michael Oldridge et al. · Nature Genetics · 1995 · 937 citations

, , +7

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

William Reardon, Robin M. Winter, Paul Rutland et al. · Nature Genetics · 1994 · 768 citations

, , +6

Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Disease Phenotype Determined by a DNA Polymorphism

Lev G. Goldfarb, Robert B. Petersen, Massimo Tabaton et al. · Science · 1992 · 718 citations

, , +17

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

Maximilian Muenke, Ute Schell, Andreas Hehr et al. · Nature Genetics · 1994 · 623 citations

, , +10