Evidence map›Paper›PMID 42592564›Full record

ArticleCase reports in dermatology

Novel Variant and a Possible New Founder Effect for Xeroderma Pigmentosum Variant Type in Southeast Brazil: Case Report.

Leonardo Ávila Ferreira, Mara Sanches Guaragna, Carlos Eduardo Steiner, Maria Letícia Cintra, Eliane Maria Ingrid Amstalden

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Case reports in dermatology. 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

5 authors.

Leonardo Ávila FerreiraDermatology Division, Department of Internal Medicine, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
Mara Sanches GuaragnaDepartment of Medical Genetics and Genomic Medicine, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
Carlos Eduardo SteinerDepartment of Medical Genetics and Genomic Medicine, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
Maria Letícia CintraPathological Anatomy, Department of Pathology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
Eliane Maria Ingrid AmstaldenPathological Anatomy, Department of Pathology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Xeroderma pigmentosum (XP) is a group of genodermatoses with autosomal recessive inheritance, comprising 9 subtypes designated A to J plus a variant (V) type, clinically characterized by increased photosensitivity, with specific subtypes more prone to ocular disease and progressive neurodegeneration. Case presentation: Three patients with the XP-V variant, a pair of sisters and an unrelated individual, presented with a novel homozygous c.1245-1G>A intronic splice site variant in the Conclusion: The possibility of dealing with a new founder effect for this specific variant in the State of Minas Gerais, in the Southeast region of Brazil, is suggested.

Indexed as

Founder effectGenetic testingMolecular diagnosisPOLHPolymerase ηXeroderma pigmentosumXeroderma pigmentosum-V

Identifiers

PMID42592564
PMCPMC13466459

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.