Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome

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

Biology, Mendelian Disorder, Genetic Disorder +8

Effects of primer-template mismatches on the polymerase chain reaction: Human immunodeficiency virus type 1 model studies

Shirley Kwok, D.E. Kellogg, Nancy McKinney et al. · Nucleic Acids Research · 1990 · 1K citations · Full text

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

Francis Rousseau, Jacky Bonaventure, Laurence Legeai‐Mallet et al. · Nature · 1994 · 928 citations

Fibrosis, Genetic Disorder, Genetics +5

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 · 605 citations

Thanatophoric Dysplasia, Fibrosis, Mendelian Disorder +8

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Gary A. Bellus, Timothy Hefferon, Rosa Isela Ortiz De Luna et al. · PubMed · 1995 · 482 citations