Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans

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

Life Sciences, Genetics, Molecular Genetics +13

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

Life Sciences, Genetics, Molecular Genetics +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

Life Sciences, Genetics, Molecular Genetics +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

Life Sciences, Genetics, Molecular Genetics +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

Life Sciences, Genetics, Molecular Genetics +10