Mutational spectrum of COL1A1 and COL1A2 in Egyptian patients with autosomal dominant osteogenesis imperfecta with clinical severity score and genotype/phenotype correlation

Aglan, Mona S.; Abdel-Hamid, Mohamed S.; Otaify, Ghada A.; More

Middle East Journal of Medical Genetics . 4(1):7-12, January 2015.