Amir Hozhabrpour, Marzieh Mojbafan, Fahimeh Palizban, Fatemeh Vahidnezhad, Saeed Talebi, Maliheh Amani, Masoud Garshasbi, Anoosh Naghavi, Raziyeh Khalesi, Parvin Mansouri, Soheila Sotoudeh, Hamidreza Mahmoudi, Aida Varghaei, Maryam Daneshpazhooh, Fatemeh Karimi, Sirous Zeinali, Elnaz Kalamati, Jouni Uitto, Leila Youssefian, Hassan Vahidnezhad
Inherited photosensitivity syndromes are a heterogeneous group of genetic skin disorders with tremendous phenotypic variability, characterized by photosensitivity and defective DNA repair, especially nucleotide excision repair. A cohort of 17 Iranian families with heritable photosensitivity syndromes was evaluated to identify their genetic defect. The patients' DNA was analyzed with either whole-exome sequencing or RNA sequencing (RNA-Seq). The interpretations of the genomic results were guided by genome-wide homozygosity mapping...
February 28, 2024: DNA Repair