Evidence map›Paper›PMID 42846438›Full record

ArticleHuman mutation2026

Xeroderma Pigmentosum Monozygotic Twins: Same Mutation Divergent Clinical Outcomes.

José Pereira Dos Santos Júnior, Maria Carolina Fernandes Cabral Dos Santos, Lidiane Gomes da Silva, Wilson José da Silva Júnior, Camila Corradi, Veridiana Munford, Valdir de Queiroz Balbino, Túlio de Lima Campos, Carlos Frederico Martins Menck, Jaqueline de Azevêdo Silva

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

José Pereira Dos Santos JúniorLaboratory of Genetic and Human Molecular Biology Department of Genetic Federal University of Pernambuco Recife Pernambuco Brazil ufpe.br.ORCID https://orcid.org/0000-0002-8279-7329
Maria Carolina Fernandes Cabral Dos SantosDNA Repair Laboratory Institute of Biomedical Sciences Department of Microbiology University of São Paulo São Paulo Brazil usp.br.ORCID https://orcid.org/0000-0003-3319-5775
Lidiane Gomes da SilvaLaboratory of Genetic and Human Molecular Biology Department of Genetic Federal University of Pernambuco Recife Pernambuco Brazil ufpe.br.ORCID https://orcid.org/0000-0003-4837-9016
Wilson José da Silva JúniorLaboratory of Bioinformatics and Evolutionary Biology Department of Genetic Federal University of Pernambuco Recife Pernambuco Brazil ufpe.br.ORCID https://orcid.org/0000-0002-6917-5306
Camila CorradiDNA Repair Laboratory Institute of Biomedical Sciences Department of Microbiology University of São Paulo São Paulo Brazil usp.br.ORCID https://orcid.org/0000-0002-2587-7576
Veridiana MunfordDNA Repair Laboratory Institute of Biomedical Sciences Department of Microbiology University of São Paulo São Paulo Brazil usp.br.ORCID https://orcid.org/0000-0003-0329-4780
Valdir de Queiroz BalbinoLaboratory of Bioinformatics and Evolutionary Biology Department of Genetic Federal University of Pernambuco Recife Pernambuco Brazil ufpe.br.ORCID https://orcid.org/0000-0002-4319-3952
Túlio de Lima CamposBioinformatics Core Facility Aggeu Magalhães Institute Oswaldo Cruz Foundation Recife Pernambuco Brazil fiocruz.br.ORCID https://orcid.org/0000-0003-0446-848X
Carlos Frederico Martins MenckDNA Repair Laboratory Institute of Biomedical Sciences Department of Microbiology University of São Paulo São Paulo Brazil usp.br.ORCID https://orcid.org/0000-0003-1941-0694
Jaqueline de Azevêdo SilvaLaboratory of Genetic and Human Molecular Biology Department of Genetic Federal University of Pernambuco Recife Pernambuco Brazil ufpe.br.ORCID https://orcid.org/0000-0003-1660-7299

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Xeroderma pigmentosum (XP) is a rare monogenic disorder characterized by UV sensitivity and skin cancer predisposition, caused by mutations in the NER pathway or the gene encoding DNA polymerase eta (Pol

Indexed as

MutationTwins, MonozygoticXeroderma PigmentosumCisplatinDNA-Directed DNA PolymeraseExcision RepairFemaleHumansMalePhenotypeTranslesion DNA SynthesisWhole Genome SequencingY-Family DNA PolymerasesCisplatinDNA-Directed DNA PolymeraseRad30 proteinY-Family DNA Polymerasesgenomic discordancemonozygotic twinsmutational signatureswhole-genome sequencingxeroderma pigmentosum

Identifiers

PMID42846438
PMCPMC13643933

What OpenQuestion holds

Textmetadata
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.