A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family

A Missense Mutation in TGM5 Causes Acral Peeling Skin Syndrome in a Tunisian Family

A Tunisian family with a novel mutation in the gene CYP 4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC 26A4 gene

International audience Background: Co-occurrence of two genetic diseases is challengi

A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation

International audience

A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family

International audience Deafness and myopia syndrome is characterized by moderate-prof

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy

Abstract Background: Corneal dystrophy (CDs) is a heterogeneous group disease, genetical

A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype–genotype correlation