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

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

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 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

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report.

Abstract Background: Corneal dystrophies (CDs) are a heterogeneous group of bilateral, g

A novel mutation in the <i>GARS</i> gene in a Malian family with Charcot‐Marie‐Tooth disease

Abstract Background Charcot‐Marie‐Tooth (CMT) disease is a very heterogeneous neurological condit

Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene