Evidence map›Paper›PMID 41283180›Full record

ArticleWorld journal of clinical cases2025

Preventing transmission of dyschromatosis universalis hereditaria through preimplantation genetic testing: A case report.

Xue-Lian Wang, Tong Zou, Yi-Cheng Wu, You-Yi Weng, Qiang Yao, Wei-Wei Sun

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

Article in World journal of clinical cases, 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

6 authors.

Xue-Lian WangDepartment of Obstetrics and Gynecology, West China Second University Hospital, Chengdu 610041, Sichuan Province, China.
Tong ZouDepartment of Obstetrics and Gynecology, West China Second University Hospital, Chengdu 610041, Sichuan Province, China.
Yi-Cheng WuDepartment of Obstetrics and Gynecology, West China Second University Hospital, Chengdu 610041, Sichuan Province, China.
You-Yi WengDepartment of Obstetrics and Gynecology, Sichuan Tianfu New Area People's Hospital, Chengdu 610041, Sichuan Province, China.
Qiang YaoDepartment of Obstetrics and Gynecology, West China Second University Hospital, Chengdu 610041, Sichuan Province, China.
Wei-Wei SunDepartment of Obstetrics and Gynecology, West China Second University Hospital, Chengdu 610041, Sichuan Province, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundDyschromatosis universalis hereditaria (DUH) is a rare type of autosomal dominant inheritance disease. It has varying gene mutation sites among different ethnicities. CASE SUMMARY: A 30-year-old woman presented with irregular black pigmentation spots to our department. Upon examination, the pigmentations were found to be especially dense on the extremities and the face. She had no family history of inbreeding, nor any previous chemical exposure. Genetic testing confirmed that the disease occurred because the patient has a

conclusionUsing assisted reproductive technology/preimplantation genetic testing for monogenic disorders is an option for DUH patients to reduce the risk of transmitting the pathogenic variant to their offspring.

Indexed as

Assisted reproductive technologyCase reportDyschromatosis universalis hereditariaMonogenic gene diseasesPigmentationPreimplantation genetic testingSASH1

Identifiers

PMID41283180
PMCPMC12635852

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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.