DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.

doi:10.1016/j.dnarep.2024.103633

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DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.

DNA repair - 1 Apr 2024

Hozhabrpour Amir, Mojbafan Marzieh, Palizban Fahimeh, Vahidnezhad Fatemeh, Talebi Saeed, Amani Maliheh, Garshasbi Masoud, Naghavi Anoosh, Khalesi Raziyeh, Mansouri Parvin, Sotoudeh Soheila, Mahmoudi Hamidreza, Varghaei Aida, Daneshpazhooh Maryam, Karimi Fatemeh, Zeinali Sirous, Kalamati Elnaz, Uitto Jouni, Youssefian Leila, Vahidnezhad Hassan

Abstract excerpt

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...

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PMID: 38422792
DOI: 10.1016/j.dnarep.2024.103633

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