Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

BACKGROUND: Achondroplasia is the most common form of skeletal dysplasia, with serious comorbidities and complications that may occur from early infancy to adulthood, requiring lifelong management from a multidisciplinary team expert in the condition The European Achondroplasia Forum guiding princip...

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Detalles Bibliográficos
Autores principales: Cormier-Daire, Valerie, AlSayed, Moeenaldeen, Alves, Inês, Bengoa, Joana, Ben-Omran, Tawfeg, Boero, Silvio, Fredwall, Svein, Garel, Catherine, Guillen-Navarro, Encarna, Irving, Melita, Lampe, Christian, Maghnie, Mohamad, Mortier, Geert, Sousa, Sérgio B., Mohnike, Klaus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Position Statement
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9327303/
https://www.ncbi.nlm.nih.gov/pubmed/35897040
http://dx.doi.org/10.1186/s13023-022-02442-2

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