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A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia

Archive ouverte | Charfeddine, C. | CCSD

International audience. Background : Mal de Meleda (MDM) is a rare autosomal recessive skin disorder which belongs to the clinically and genetically heterogeneous group of palmoplantar keratodermas (PPK). Clinically...

Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families

Archive ouverte | Charfeddine, Slim | CCSD

International audience

Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.

Archive ouverte | Charfeddine, C | CCSD

International audience. Tyrosinemia type II or Richner-Hanhart Syndrome (RHS) is an autosomal recessive disorder characterized by keratitis, palmoplantar keratosis, mental retardation, and elevated blood tyrosine le...

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