Author/Authors :
William S. Horton، نويسنده , , Judith A. Hall، نويسنده , , Jacqueline T Hecht، نويسنده ,
Abstract :
Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250 000 individuals worldwide. More than 95% of patients have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) and more t