Concepedia

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

Gary A. Bellus, Iain McIntosh, Elizabeth A. Smith, Arthur S. Aylsworth, Ilkka Kaitila, William A. Horton, Giselle A. Greenhaw, Jacqueline T. Hecht, Clair A. Francomano

Nature Genetics · 1995 · 476 citations · 23 references

DOI

Concepts

References

23

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

Rita Shiang, Leslie M. Thompson, Yazhen Zhu et al. · Cell · 1994 · 1.3K citations

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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 gene encoding fibroblast growth factor receptor-3 in achondroplasia

Francis Rousseau, Jacky Bonaventure, Laurence Legeai‐Mallet et al. · Nature · 1994 · 934 citations

, , +6

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

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