Figure 1

Co-occurrence of LEMD3 and EXT1 mutations. (A) Co-occurrence of LEMD3 (*) and EXT1 missense mutation (α) in the family affected with osteopoikilosis. A 9 bp deletion in EXT1 gene (β) affecting patient suffering from multiple exostoses. (B) Representative electrophoregrams of the detected mutations. Osteopoikilosis phenotype is shown in black, whereas multiple exostoses syndrome is represented with brown colour. Horizontal bars over symbols mark patients who underwent clinical examination and molecular testing.