FGFR3 mutation causes abnormal membranous ossification in achondroplasia

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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Bibliografiske detaljer
Main Authors: Federico Di Rocco, Martin Biosse Duplan, Yann Heuzé, Nabil Kaci, Davide Komla‐Ebri, Arnold Münnich, Emilie Mugniery, Catherine Benoist-Lasselin, Laurence Legeai‐Mallet
Format: Artigo
Sprog:engelsk
Udgivet: 2014
Online adgang:https://doi.org/10.1093/hmg/ddu004
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https://doi.org/10.1093/hmg/ddu004

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