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Article

Monozygotic twins with group C xeroderma pigmentosum due to a compound heterozygous mutation in XPC gene.

The Journal of dermatology - 1 Mar 2019

Zhang Shi-De, Long Fuquan, Ai Dongfang, Li Ping, Feng Shijun, Rajbanshi Bhavana, Zhao Jingjun

Abstract excerpt

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Share to DNA-Binding Proteins
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 30101995
DOI: 10.1111/1346-8138.14599

Genes

XPC

Provenance

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Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Monozygotic twins with group C xeroderma pigmentosum due to a compound heterozygous mutation in XPC gene.PMID 30101995Read ↗

A case of xeroderma pigmentosum group C with rare compound heterozygous mutations.Semantic proximity Read ↗

Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum.Semantic proximity Read ↗

XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect.Semantic proximity Read ↗

Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families.Semantic proximity Read ↗

Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.Semantic proximity Read ↗

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

A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.Semantic proximity Read ↗

[Advance in research on causative genes of xeroderma pigmentosum and related diseases].Semantic proximity Read ↗

Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.Semantic proximity Read ↗

Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.Semantic proximity Read ↗

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.Semantic proximity Read ↗

Importance of genotype-phenotype correlation in xeroderma pigmentosum.Semantic proximity Read ↗

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