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Article

Efficacy of vosoritide in the treatment of achondroplasia.

Drugs of today (Barcelona, Spain : 1998) - 1 Sept 2022

Paton David M

Abstract excerpt

Achondroplasia is the commonest form of dwarfism and results from a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene on chromosome 4p16.3. The mutation is at nucleotide 1138 resulting in a G-to-A transition (134934.0001). This condition is characterized by full penetration meaning that everyone with this genetic mutation will exhibit the phenotypic characteristics of achondroplasia. It is a...

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PMID: 36102905
DOI: 10.1358/dot.2022.58.9.3422313

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