Genotype-phenotype associations in a robust cohort of 69 patients with xeroderma pigmentosum across Türkiye: a multicentre study.

doi:10.1093/bjd/ljaf533

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Article

Genotype-phenotype associations in a robust cohort of 69 patients with xeroderma pigmentosum across Türkiye: a multicentre study.

The British journal of dermatology - 19 Mar 2026

Baskurt Defne, Altıner Şule, Atcı Tuğba, Akay Bengü Nisa, Duman Nilay, Engin Burhan, Botsalı Ayşenur, Yazıcı Serkan, Duz Mehmet Bugrahan, Adışen Esra, Özdemir İrem, Aksu Arıca Deniz, Baykal Selçuk Leyla, Kaderi Pınar, Aykut Ayça, Topkarcı Zeynep, Durmaz Asude, Gürsel Ürün Yıldız, Erdemir Vefa Aslı, Bulut Demir Ferhan, Karaarslan Işıl, Yücelten Deniz, Ersoy Evans Sibel, Vural Seçil

Abstract excerpt

BACKGROUND: Xeroderma pigmentosum (XP) is a rare DNA damage repair disorder. Seven distinct complementation groups and an XP variant form have been identified; however, limited literature exists on the genotype-phenotype correlation in XP. OBJECTIVES: To explore the manifestations of XP variants in patients from Türkiye. METHODS: Our multicentric investigation involved 69 patients with XP from 52 unrelated...

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PMID: 41483010
DOI: 10.1093/bjd/ljaf533

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