Article
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
Nature reviews. Endocrinology - 1 Mar 2022
Savarirayan Ravi, Ireland Penny, Irving Melita, Thompson Dominic, Alves Inês, Baratela Wagner A R, Betts James, Bober Michael B, Boero Silvio, Briddell Jenna, Campbell Jeffrey, Campeau Philippe M, Carl-Innig Patricia, Cheung Moira S, Cobourne Martyn, Cormier-Daire Valérie, Deladure-Molla Muriel, Del Pino Mariana, Elphick Heather, Fano Virginia, Fauroux Brigitte, Gibbins Jonathan, Groves Mari L, Hagenäs Lars, Hannon Therese, Hoover-Fong Julie, Kaisermann Morrys, Leiva-Gea Antonio, Llerena Juan, Mackenzie William, Martin Kenneth, Mazzoleni Fabio, McDonnell Sharon, Meazzini Maria Costanza, Milerad Josef, Mohnike Klaus, Mortier Geert R, Offiah Amaka, Ozono Keiichi, Phillips John A, Powell Steven, Prasad Yosha, Raggio Cathleen, Rosselli Pablo, Rossiter Judith, Selicorni Angelo, Sessa Marco, Theroux Mary, Thomas Matthew, Trespedi Laura, Tunkel David, Wallis Colin, Wright Michael, Yasui Natsuo, Fredwall Svein Otto
Abstract excerpt
Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton. The clinical and radiographic...
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