Fig. 3From: Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case reportThe missense mutations in SLC26A2 in patient 1 and family pedigree. Sanger sequencing results revealed novel compound heterozygous mutations (a) in SLC26A2 contributing to MED-4 (c). Both of these mutations are evolutionarily conserved (b)Back to article page