Day 21......Mutations in the FGFR3 gene cause achondroplasia. The - TopicsExpress

Day 21......Mutations in the FGFR3 gene cause achondroplasia. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researchers believe that these mutations cause the FGFR3 protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen with this disorder......Toby was diagnosed before birth but confirmed after birth (his cord was drained of blood and tested)

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