A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype–genotype correlation
Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients
c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum
Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.
Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia.
Novel mutation in POLH gene responsible of severe phenotype of XP-V
The experience of a Tunisian referral centre in prenatal diagnosis of Xeroderma pigmentosum.
Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.
Cytogenetic assessment of Fanconi anemia in children with aplastic anemia in Tunisia.
Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.
Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.
High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.