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New developments in the management of achondroplasia

Achondroplasia is the most common form of disproportionate short stature. A dominantly inherited FGFR3 mutation permanently activates the fibroblast growth factor receptor 3 (FGFR3) and its downstream mitogen-activated protein kinase (MAPK) signalling pathway. This inhibits chondrocyte differentiati...

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Detalles Bibliográficos
Autores principales: Högler, Wolfgang, Ward, Leanne M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Vienna 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7098936/
https://www.ncbi.nlm.nih.gov/pubmed/32144686
http://dx.doi.org/10.1007/s10354-020-00741-6