Egyptian achondroplasia is defined by recurrent G380R mutations of fibroblast growth factor receptor-3 gene

ABSTRACT

Objective: Achondroplasia, the most common form of short-limbed dwarfism in humans, occurs between 1 in 15,000 and 40,000 live births. More then 97% of persons with achondroplasia have a Gly380Arg mutation in the transmembrane domain of the fibroblast growth factor receptor [FGFR]- 3 gene. This stydy aims to determine if this mutation is common among Egyptian patients or not