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

Mariem Ben Rekaya (1) , Olfa Messaoud (1) , Amel Mebazaa (2, 3) , Olfa Riahi (2, 3) , Hela Azaiez (1) , Rim Kefi (1) , Mohamed Zghal (4) , Samir Boubaker (4) , Ahlem Amouri (1) , Amel Ben Osman-Dhahri (5, 3) , Sonia Abdelhak (1) , Mourad Mokni (2, 3)

1 Institut Pasteur de Tunis
2 Study of Hereditary Keratinization Disorders Research Unit
3 Dermatology Department
4 Laboratoire d’Anatomie Pathologique Humaine et Expérimentale
5 Hôpital Habib Thameur [Tunis]

Sans

Keywords: xeroderma pigmentosum-V; late-onset phenotype; novel mutation; phenotype-genotype correlation

Domains: Life Sciences [q-bio]

Mariem Ben Rekaya, Olfa Messaoud, Amel Mebazaa, Olfa Riahi, Hela Azaiez, et al.. A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.. Journal of Genetics, 2011, 90 (3), pp.483-487. ⟨10.1007/s12041-011-0101-y⟩. ⟨pasteur-00859433⟩