Evidence map›Paper›PMID 40362475›Full record

ReviewInternational journal of molecular sciences2025

A Novel Homozygous 9385 bp Deletion in the

Alfred Klausegger, Fabian Leditzky, Susanne Krämer, Francis Palisson, María Joao Yubero, Sebastián Véliz, Mark Jean Aan Koh, Ene-Choo Tan, Martin Laimer, Johann Wolfgang Bauer and 1 more

Abstract readCase ReportsReview
In one paragraph

Review in International journal of molecular sciences, 2025. 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

11 authors.

Alfred KlauseggerEB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Fabian LeditzkyEB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Susanne KrämerSpecial Care Clinic, Universidad de Chile, Olivos 943, Independencia, Santiago 8380544, Chile.ORCID 0000-0002-8510-4022
Francis PalissonServicio de Dermatología, Facultad de Medicina Clínica Alemana, Universidad del Desarrollo, Santiago 7591538, Chile.
María Joao YuberoDEBRA Chile, Santiago 8580670, Chile.
Sebastián VélizSpecial Care Clinic, Universidad de Chile, Olivos 943, Independencia, Santiago 8380544, Chile.
Mark Jean Aan KohDepartment of Dermatology, KK Women's and Children's Hospital, Singapore 229899, Singapore.
Ene-Choo TanResearch Center, KK Women's and Children's Hospital, Singapore 229899, Singapore.ORCID 0000-0001-5497-6058
Martin LaimerEB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
Johann Wolfgang BauerEB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.ORCID 0000-0002-6085-9170
Ignacia FuentesDEBRA Chile, Santiago 8580670, Chile.ORCID 0000-0002-8987-1317

Funding

National Medical Research Council NMRC/CG/006/2021
6 · The paper itself

Abstract

Kindler Epidermolysis bullosa (KEB; OMIM 173650) is a rare autosomal recessive genodermatosis characterized by bullous poikiloderma and photosensitivity. Additional presentations include blistering, poor wound healing, skin atrophy, and increased risk of skin cancer. Most cases of KEB result from aberrations in the

Indexed as

BlisterEpidermolysis BullosaMembrane ProteinsNeoplasm ProteinsPeriodontal DiseasesPhotosensitivity DisordersSequence DeletionAdultExonsHomozygoteHumansMalaysiaMalePedigreeFERMT1 protein, humanMembrane ProteinsNeoplasm Proteinsamelogenesis imperfectadeletionFERMT1Kindler Epidermolysis bullosapoikiloderma

Identifiers

PMID40362475
PMCPMC12072249

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.