The first European consensus on principles of management for achondroplasia

Achondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 (FGFR3). The management of achondroplasia is multifaceted, requiring the involvement of multiple specialties across the life course. There are significant...

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Detalles Bibliográficos
Autores principales: Cormier-Daire, Valerie, AlSayed, Moeenaldeen, Ben-Omran, Tawfeg, de Sousa, Sérgio Bernardo, Boero, Silvio, Fredwall, Svein O., Guillen-Navarro, Encarna, Irving, Melita, Lampe, Christian, Maghnie, Mohamad, Mortier, Geert, Peijin, Zagorka, Mohnike, Klaus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Position Statement
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8325831/
https://www.ncbi.nlm.nih.gov/pubmed/34332609
http://dx.doi.org/10.1186/s13023-021-01971-6

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