Email Alerting, Geert R Mortier, Maryann Weis, Lieve Nuytinck, Lily M King, Douglas J Wilkin, ...
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
Ehtesham, Nadia, Cantor, Rita M., King, Lily M., Reinker, Kent, Powell, Berkley R., Shanske, Alan, ...
Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest. The radiographic phenotype includes...