FGFR3 mutation causes abnormal membranous ossification in achondroplasia
FGFR3 gain-of-function mutations lead to both chondrodysplasias and craniosynostoses. Achondroplasia (ACH), the most frequent dwarfism, is due to an FGFR3-activating mutation which results in impaired endochondral ossification. The effects of the mutation on membranous ossification are unknown. Fgfr...
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| Auteurs principaux: | , , , , , , , , |
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| Format: | Artigo |
| Langue: | anglais |
| Publié: |
2014
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| Accès en ligne: | https://doi.org/10.1093/hmg/ddu004 |
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