Molecular Confirmation of G1138A Mutation in FGFR gene in Achondroplasia
Introduction: Achondroplasia (ACH) is the most common form of skeletal dysplasia of genetic origin in humans which is characterized by disproportionate rhizomelic dwarfism.Heterozygous mutation in the transmembrane domain of the FGFR3 gene (4p16.3) occurs as a de novo mutation in most of the cases.Methods: DNA was isolated from seven samples, out o