A Comprehensive Clinical and Therapeutic Review of Achondroplasia and Related Skeletal Dysplasias
Gain-of-function mutations in the FGFR3 gene cause achondroplasia, the most prevalent skeletal dysplasia, characterized by disproportionately small stature and impaired endochondral ossification. The constitutive receptor activation caused by the recurrent G380R mutation in FGFR3 interferes with ske...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Iraqi Medical Research Center
2026-01-01
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| Col·lecció: | Medical and Pharmaceutical Journal |
| Matèries: | |
| Accés en línia: | https://pharmacoj.com/ojs/index.php/Medph/article/view/170 |
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