Jugular bulb dehiscence in achondroplasia

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

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Gary A. Bellus, Timothy Hefferon, Rosa Isela Ortiz De Luna et al. · PubMed · 1995 · 483 citations

Life Sciences, Genetics, Molecular Genetics +7

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

Paul Rutland, Louise J. Pulleyn, William Reardon et al. · Nature Genetics · 1995 · 457 citations

Life Sciences, Genetics, Molecular Genetics +7

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

Gregory A. Meyers, Seth J. Orlow, Ian R. Munro et al. · Nature Genetics · 1995 · 393 citations

Life Sciences, Genetics, Molecular Genetics +11

Malformations and anatomical variations seen in the middle ear during the operation for mobilization of the stapes

J. V. D. Hough · The Laryngoscope · 1958 · 221 citations

Medicine, Anatomy, Surgery +14