Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients

►First study on molecular defect in Tunisian MPSIII patients. ►Molecular characterization and clinical finding in 13 patients from 12 families. ►Description of 11 different mutations of which 8 are reported here for the first time. ►Large-scale deletion of 7093 bp (SGSH exons 1-5, SLC26A11 exon 1-part of the exon 2).