Evidence map›Paper›PMID 41675682›Full record

ArticleMolecular syndromology2026

Dominant Dystrophic Epidermolysis Bullosa with

Xinyu Feng, Chunmeng Liu, Wanli Niu, Yi Hu, Qi Zhen, Weiwei Chen, Yirui Wang, Zhuo Li, Juan Du, Xiaofen Guo and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 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

14 authors.

Xinyu FengNorth China University of Science and Technology Affiliated Hospital, Tangshan, China.
Chunmeng LiuInflammation and Immune Diseases Laboratory of North China University of Science and Technology, Tangshan, China.
Wanli NiuInflammation and Immune Diseases Laboratory of North China University of Science and Technology, Tangshan, China.
Yi HuInstitute of Dermatology of Integrative Chinese and Western Medicine, Tianjin Academy of Traditional Chinese Medicine, Tianjin, China.
Qi ZhenNorth China University of Science and Technology Affiliated Hospital, Tangshan, China.
Weiwei ChenDepartment of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Yirui WangDepartment of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Zhuo LiDepartment of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Juan DuInflammation and Immune Diseases Laboratory of North China University of Science and Technology, Tangshan, China.
Xiaofen GuoNorth China University of Science and Technology Affiliated Hospital, Tangshan, China.
Mingwei LvInflammation and Immune Diseases Laboratory of North China University of Science and Technology, Tangshan, China.
Yu ZhangInstitute of Dermatology of Integrative Chinese and Western Medicine, Tianjin Academy of Traditional Chinese Medicine, Tianjin, China.
Yang HanNorth China University of Science and Technology Affiliated Hospital, Tangshan, China.
Liangdan SunNorth China University of Science and Technology Affiliated Hospital, Tangshan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Epidermolysis bullosa (EB) comprises a diverse group of rare, incurable genetic disorders characterized by blistering of the skin. These conditions have variable clinical presentations and poorly understood genotypes and phenotypes. This study aimed to confirm the diagnosis of dystrophic epidermolysis bullosa (DEB) in a family and analyze gene-phenotype correlations. Methods: The study involved 3 patients, two controls, and one member with an unknown phenotype. We performed whole exome sequencing (WES) on family members to identify EB-associated genes, with Sanger sequencing for validation. Results: (1) WES revealed missense variants in the Conclusion: This study identified variants in the

Indexed as

Dystrophic epidermolysis bullosaGenotype-phenotypeRare diseasesSanger sequencingWhole exome sequencing

Identifiers

PMID41675682
PMCPMC12890284

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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.