Although inherited as an autosomal dominant trait, it results most often from a new mutation to unaffected parents. Virtually all patients have the same mutation in the gene that codes for the receptor tyrosine kinase, FGFR3. The mutation exaggerates the receptor's inhibitory functions on bone ...
Achondroplasia (ACH) is the most common form of chondrodysplasia in humans. This disorder is inherited as an autosomal dominant trait, though most cases are sporadic. Recent advances in molecular biology have revealed its genetic defect in fibroblast growth factor-3 gene. This may introduce a new...