Current and emerging therapies for Achondroplasia: The dawn of precision medicine

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

Fibroblast Growth Factor Receptor 3 Is a Negative Regulator of Bone Growth

Anthony Wynshaw‐Boris, Fen Zhou, Ann Kuo et al. · Cell · 1996 · 1.1K citations · Full text

Medicine, Cell Biology, Orthopaedic Surgery +12

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

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

Dwarfism and early death in mice lacking C-type natriuretic peptide

Hideki Chusho, Naohisa Tamura, Yoshihiro Ogawa et al. · Proceedings of the National Academy of Sciences · 2001 · 470 citations · Full text

Medicine, Pathology, Physiology +12