Genotype–phenotype associations in a robust cohort of 69 patients with xeroderma pigmentosum across Türkiye: a multicentre study
We found unique clinical patterns and diversity among complementation groups in Turkish patients with XP. Future investigations should focus on functional characterization of the novel variants, preferably through assays like unscheduled DNA synthesis, to determine their potential impact on DNA repair mechanisms and their implications for improved patient care.
Authors
- Defne Başkurt (ORCID: https://orcid.org/0000-0002-9923-205X)
- Asude Durmaz (ORCID: https://orcid.org/0000-0002-4109-9401)
- Tuğba Atcı (ORCID: https://orcid.org/0000-0003-0505-3788)
- Serkan Yazıcı (ORCID: https://orcid.org/0000-0001-6407-0962)
- Işıl Karaarslan (ORCID: https://orcid.org/0000-0001-5348-027X)
- Ayşenur Botsalı (ORCID: https://orcid.org/0000-0001-9431-2125)
- Deniz Aksu Arıca (ORCID: https://orcid.org/0000-0003-3755-4325)
- Deniz Yücelten
- Zeynep Topkarcı (ORCID: https://orcid.org/0000-0002-3847-0695)
- Sibel Ersoy Evans (ORCID: https://orcid.org/0000-0002-5040-2476)
- Mehmet Buğrahan Düz (ORCID: https://orcid.org/0000-0003-2140-5456)
- B. Engin
- Seçil Vural (ORCID: https://orcid.org/0000-0001-6561-196X)
- Bengü Nisa Akay (ORCID: https://orcid.org/0000-0002-4896-1666)
- Yıldız Gürsel Ürün (ORCID: https://orcid.org/0000-0002-6137-8395)
- Esra Adışen
- Ayça Aykut (ORCID: https://orcid.org/0000-0002-1460-0053)
- Fatih Demir (ORCID: https://orcid.org/0000-0002-8181-0739)
- İrem Özdemir (ORCID: https://orcid.org/0000-0001-9764-4678)
- Şule Özel
- Leyla Baykal Selçuk
- Pınar Kaderi
- Nilay Duman
- Vefa Aslı Erdemir
Institutions
- Koç University (TR)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2025-12-27
- DOI
- https://doi.org/10.1093/bjd/ljaf533
- Primary Topic
- DNA Repair Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00