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...

全面介绍

Saved in:
书目详细资料
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
格式: Artigo
语言:英语
出版: 2014
在线阅读:https://doi.org/10.1093/hmg/ddu004
标签: 添加标签
没有标签, 成为第一个标记此记录!