Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

BACKGROUND: Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify the burden of achondroplasia among individuals across a bro...

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Detalles Bibliográficos
Autores principales: Maghnie, Mohamad, Semler, Oliver, Guillen-Navarro, Encarna, Selicorni, Angelo, Heath, Karen E., Haeusler, Gabriele, Hagenäs, Lars, Merker, Andrea, Leiva-Gea, Antonio, González, Vanesa López, Raimann, Adalbert, Rehberg, Mirko, Santos-Simarro, Fernando, Ertl, Diana-Alexandra, Gregersen, Pernille Axél, Onesimo, Roberta, Landfeldt, Erik, Jarrett, James, Quinn, Jennifer, Rowell, Richard, Pimenta, Jeanne, Cohen, Shelda, Butt, Thomas, Shediac, Renée, Mukherjee, Swati, Mohnike, Klaus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10015810/
https://www.ncbi.nlm.nih.gov/pubmed/36922864
http://dx.doi.org/10.1186/s13023-023-02652-2

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