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

Non‐syndromic retinitis pigmentosa: Phenotype‐genotype correlation in twelve Tunisian families

Abstract Purpose To evaluate the clinical phenotype of twelve families with non syndromic retinit

Data_Sheet_1_Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype.docx

Xeroderma Pigmentosum (XP) is a rare genetic disorder affecting the nucleotide excision repair sy

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

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

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

International audience

A novel homozygous c.1154+3_1151+6delAAGT mutation in CERKL causes autosomal recessive retinitis pigmentosa with a special phenotype in a consanguineous Tunisian Family

Purpose The aim of our study was to assess the clinical phenotype and to determine the causative ge