Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

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

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

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Patricia L. Tavormina, Rita Shiang, Leslie M. Thompson et al. · Nature Genetics · 1995 · 606 citations

Life Sciences, Genetics, Molecular Genetics +14

Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia

Michael C. Naski, Qing Wang, David M. Ornitz · Nature Genetics · 1996 · 500 citations

Life Sciences, Genetics, Molecular Genetics +12

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

Gary A. Bellus, Iain McIntosh, Elizabeth A. Smith et al. · Nature Genetics · 1995 · 476 citations

Life Sciences, Genetics, Molecular Genetics +12