International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

Autor: Virginia Fano, Martyn T. Cobourne, Patricia Carl-Innig, Michael B. Bober, Melita Irving, Fabio Mazzoleni, Jeffrey W. Campbell, Brigitte Fauroux, Dominic Thompson, Judith P Rossiter, Jenna W. Briddell, Yosha Prasad, Mary C. Theroux, Geert Mortier, Antonio Leiva-Gea, Amaka C. Offiah, Klaus Mohnike, Penny Ireland, James A. Betts, Juan Llerena, Steven Powell, Heather Elphick, Pablo Rosselli, Wagner A.R. Baratela, Therese Hannon, Kenneth W. Martin, Marco Sessa, Natsuo Yasui, Michael Wright, Moira Cheung, Matthew Thomas, Inês Alves, Jonathan Gibbins, Cathleen L. Raggio, Muriel Deladure-Molla, Angelo Selicorni, Lars Hagenäs, Sharon McDonnell, William G. Mackenzie, Morrys Kaisermann, Maria Costanza Meazzini, Svein O. Fredwall, Laura Trespedi, Ravi Savarirayan, Philippe M. Campeau, Mari L. Groves, Valérie Cormier-Daire, Keiichi Ozono, Julie Hoover-Fong, David E. Tunkel, John A. Phillips, Josef Milerad, Silvio Boero, C Wallis, Mariana del Pino

Publikováno v: Nature reviews : endocrinology
Savarirayan, R, Fredwall, S, Ireland, P, Irving, M D, Thompson, D, Alves, I, Baratela, W A R & Betts, J 2022, ' International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia ', Nature Reviews Endocrinology, vol. 18, no. 3, pp. 173-189 . https://doi.org/10.1038/s41574-021-00595-x

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 tha

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https://pubmed.ncbi.nlm.nih.gov/34837063